CleftGeneDB-Search

Gene: MTHFR

Basic information

Tag	Content
Uniprot ID	P42898; B2R7A6; Q5SNW6; Q5SNW9; Q7Z6M6; Q8IU73; Q9UQR2;
Entrez ID	4524
Genbank protein ID	AAA74440.2; BAG35753.1; AAP88033.1; EAW71709.1; AAH53509.1; AAN40865.1; AAL17648.1; AAD17965.1; CAB41971.1;
Genbank nucleotide ID	XM_005263462.4; NM_001330358.1; XM_005263460.4; NM_005957.4;
Ensembl protein ID	ENSP00000365770; ENSP00000365775; ENSP00000365767; ENSP00000365777;
Ensembl nucleotide ID	ENSG00000177000
Gene name	Methylenetetrahydrofolate reductase
Gene symbol	MTHFR
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	20572854; 20082468; 27167580; 26110153; 23725631; 25745606; 24254627; 26236436; 18661527; 16470725; 15054400; 19419265; 12672677; 1159940; 20890936; 23787444; 25191068; 26540672; 15221800; 25219684; 26140186; 24460828; 27387868; 12796044; 21612398; 25808365;
Functional description	Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.
Sequence	MVNEARGNSS LNPCLEGSAS SGSESSKDSS RCSTPGLDPE RHERLREKMR RRLESGDKWF 60 SLEFFPPRTA EGAVNLISRF DRMAAGGPLY IDVTWHPAGD PGSDKETSSM MIASTAVNYC 120 GLETILHMTC CRQRLEEITG HLHKAKQLGL KNIMALRGDP IGDQWEEEEG GFNYAVDLVK 180 HIRSEFGDYF DICVAGYPKG HPEAGSFEAD LKHLKEKVSA GADFIITQLF FEADTFFRFV 240 KACTDMGITC PIVPGIFPIQ GYHSLRQLVK LSKLEVPQEI KDVIEPIKDN DAAIRNYGIE 300 LAVSLCQELL ASGLVPGLHF YTLNREMATT EVLKRLGMWT EDPRRPLPWA LSAHPKRREE 360 DVRPIFWASR PKSYIYRTQE WDEFPNGRWG NSSSPAFGEL KDYYLFYLKS KSPKEELLKM 420 WGEELTSEES VFEVFVLYLS GEPNRNGHKV TCLPWNDEPL AAETSLLKEE LLRVNRQGIL 480 TINSQPNING KPSSDPIVGW GPSGGYVFQK AYLEFFTSRE TAEALLQVLK KYELRVNYHL 540 VNVKGENITN APELQPNAVT WGIFPGREII QPTVVDPVSF MFWKDEAFAL WIERWGKLYE 600 EESPSRTIIQ YIHDNYFLVN LVDNDFPLDN CLWQVVEDTL ELLNRPTQNA RETEAP 656

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
6FCX

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MTHFR	497032	A0A3Q1M8J1		Bos taurus	Prediction	More>>
1:1 ortholog	MTHFR		E2QXW9		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MTHFR	102182523	A0A452G4N1		Capra hircus	Prediction	More>>
1:1 ortholog	MTHFR		A0A3Q2HUW6		Equus caballus	Prediction	More>>
1:1 ortholog	MTHFR	4524	P42898	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Mthfr		A2A7F9		Mus musculus	Prediction	More>>
1:1 ortholog	MTHFR	469800	H2PY11		Pan troglodytes	Prediction	More>>
1:1 ortholog		397180	F1RF82		Sus scrofa	Prediction	More>>
1:1 ortholog	Mthfr	362657	D4A7E8		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mthfr	567547	B0V153		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MTHFR	rs1801131; c.1298A>C	PCR�restriction fragment length polymorphism.	25219684
MTHFR	rs1801133; c.677C>T	PCR�restriction fragment length polymorphism.	25219684
MTHFR	c.1298A>C	PCR	26236436
MTHFR	c.677C>T	PCR	26236436
MTHFR	c.1298A>C	RFLP-PCR; ARMS_PCR	25745606
MTHFR	c.677C>T	RFLP-PCR; ARMS_PCR	25745606
MTHFR	c.1298A>C	RFLP-PCR;	26110153
MTHFR	rs1801133A>C	TDT	25808365
MTHFR	rs1801133; c.677C>T	TaqMan SNP Genotyping Assay	26540672
MTHFR	c.677C>T	Genotyping	24460828
MTHFR	rs2274976G>A	Genotyping; TDT	24254627
MTHFR	c.677C>T	PCR; RFLP	23787444
MTHFR	c.677C>T	Genotyping; TDT	16470725
MTHFR	c.677C>T	PCR; TDT	15221800
MTHFR	c.677C>T	Transmission disequilibrium test	1159940
MTHFR	rs2274976G>A	PCR-RFLP	20890936
MTHFR	c.665C>T; p.A222V	WES and Sanger sequencing	26449438
MTHFR	rs1801133; c.677C>T (increase risk)	meta analysis	32124929
MTHFR	rs1801133; c.677C>T	PCR-RFLP	27167580
MTHFR	c.677C>T	PCR-RFLP	18661527
MTHFR	c.677C>T	Genotyping	20082468
MTHFR	c.677C>T	PCR	19419265
MTHFR	rs1476413C>T;	Genotyping	20572854
MTHFR	rs1801131T>G; c.1298A>C;	Genotyping	20572854
MTHFR	rs1994798A>G;	Genotyping	20572854
MTHFR	rs4846054T>C;	Genotyping	20572854
MTHFR	rs2076001A>G	Genotyping	20572854
MTHFR	c.677C>T	Genotyping; TDT	15054400

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000594799	p.Met1Ile	missense variant	-	NC_000001.11:g.11803114C>G	ClinVar
RCV000599118	p.Met1Val	missense variant	-	NC_000001.11:g.11803116T>C	ClinVar
rs1332859061	p.Val2Ala	missense variant	-	NC_000001.11:g.11803112A>G	TOPMed
rs760971509	p.Val2Met	missense variant	-	NC_000001.11:g.11803113C>T	ExAC,TOPMed,gnomAD
rs772252042	p.Glu4Lys	missense variant	-	NC_000001.11:g.11803107C>T	ExAC,TOPMed,gnomAD
rs772252042	p.Glu4Gln	missense variant	-	NC_000001.11:g.11803107C>G	ExAC,TOPMed,gnomAD
rs748686763	p.Arg6Ser	missense variant	-	NC_000001.11:g.11803099T>G	ExAC,TOPMed,gnomAD
COSM4834494	p.Arg6Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11803101T>C	NCI-TCGA Cosmic
COSM3801447	p.Arg6Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11803100C>G	NCI-TCGA Cosmic
rs925247064	p.Gly7Glu	missense variant	-	NC_000001.11:g.11803097C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asn8Ser	missense variant	-	NC_000001.11:g.11803094T>C	NCI-TCGA
rs143428827	p.Ser10Thr	missense variant	-	NC_000001.11:g.11803088C>G	ESP,ExAC,TOPMed,gnomAD
rs143428827	p.Ser10Asn	missense variant	-	NC_000001.11:g.11803088C>T	ESP,ExAC,TOPMed,gnomAD
rs768905024	p.Leu11Phe	missense variant	-	NC_000001.11:g.11803086G>A	ExAC,gnomAD
rs1046343781	p.Asn12Lys	missense variant	-	NC_000001.11:g.11803081G>T	TOPMed
rs749606539	p.Pro13Leu	missense variant	-	NC_000001.11:g.11803079G>A	ExAC,gnomAD
rs1417143049	p.Leu15Ser	missense variant	-	NC_000001.11:g.11803073A>G	TOPMed,gnomAD
rs780279740	p.Glu16Gly	missense variant	-	NC_000001.11:g.11803070T>C	ExAC,gnomAD
rs1333552513	p.Ala19Val	missense variant	-	NC_000001.11:g.11803061G>A	gnomAD
rs1410562479	p.Ser20Gly	missense variant	-	NC_000001.11:g.11803059T>C	gnomAD
rs1215184376	p.Ser21Arg	missense variant	-	NC_000001.11:g.11803054A>C	TOPMed
rs372125653	p.Ser21Asn	missense variant	-	NC_000001.11:g.11803055C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777286995	p.Ser23Asn	missense variant	-	NC_000001.11:g.11803049C>T	ExAC,gnomAD
rs777286995	p.Ser23Ile	missense variant	-	NC_000001.11:g.11803049C>A	ExAC,gnomAD
rs752585350	p.Glu24Asp	missense variant	-	NC_000001.11:g.11803045C>G	ExAC,gnomAD
rs1484182630	p.Lys27Glu	missense variant	-	NC_000001.11:g.11803038T>C	gnomAD
rs1235705216	p.Ser29Gly	missense variant	-	NC_000001.11:g.11803032T>C	TOPMed,gnomAD
RCV000259822	p.Ser30Leu	missense variant	-	NC_000001.11:g.11803028G>A	ClinVar
rs886043815	p.Ser30Leu	missense variant	-	NC_000001.11:g.11803028G>A	-
rs762296846	p.Arg31Ser	missense variant	-	NC_000001.11:g.11803024T>A	gnomAD
rs759381630	p.Thr34Ser	missense variant	-	NC_000001.11:g.11803017T>A	ExAC,gnomAD
rs753730796	p.Thr34Ile	missense variant	-	NC_000001.11:g.11803016G>A	ExAC,TOPMed,gnomAD
rs766242179	p.Pro35Leu	missense variant	-	NC_000001.11:g.11803013G>A	ExAC,gnomAD
rs376266183	p.Gly36Val	missense variant	-	NC_000001.11:g.11803010C>A	ESP,ExAC,TOPMed,gnomAD
rs376266183	p.Gly36Ala	missense variant	-	NC_000001.11:g.11803010C>G	ESP,ExAC,TOPMed,gnomAD
rs761916311	p.Asp38His	missense variant	-	NC_000001.11:g.11803005C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu40Lys	missense variant	-	NC_000001.11:g.11802999C>T	NCI-TCGA
rs749729349	p.Arg41Trp	missense variant	-	NC_000001.11:g.11802996G>A	ExAC,gnomAD
rs775972969	p.Arg41Gln	missense variant	-	NC_000001.11:g.11802995C>T	ExAC,TOPMed,gnomAD
COSM4863176	p.Glu43Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11802988C>G	NCI-TCGA Cosmic
rs1395556961	p.Arg44Lys	missense variant	-	NC_000001.11:g.11802986C>T	gnomAD
rs776483190	p.Arg46Pro	missense variant	-	NC_000001.11:g.11802980C>G	ExAC,TOPMed,gnomAD
rs776483190	p.Arg46Gln	missense variant	-	NC_000001.11:g.11802980C>T	ExAC,TOPMed,gnomAD
rs776483190	p.Arg46Gln	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802980C>T	UniProt,dbSNP
VAR_074111	p.Arg46Gln	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802980C>T	UniProt
RCV000167586	p.Arg46Trp	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802981G>A	ClinVar
rs138189536	p.Arg46Trp	missense variant	-	NC_000001.11:g.11802981G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000167587	p.Arg46Gln	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802980C>T	ClinVar
rs992117198	p.Lys48Arg	missense variant	-	NC_000001.11:g.11802974T>C	TOPMed,gnomAD
rs201618781	p.Arg51Pro	missense variant	-	NC_000001.11:g.11802965C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201618781	p.Arg51Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802965C>G	UniProt,dbSNP
VAR_009530	p.Arg51Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802965C>G	UniProt
rs201618781	p.Arg51Gln	missense variant	-	NC_000001.11:g.11802965C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764131110	p.Arg51Trp	missense variant	-	NC_000001.11:g.11802966G>A	ExAC,TOPMed,gnomAD
RCV000175816	p.Arg51Trp	missense variant	-	NC_000001.11:g.11802966G>A	ClinVar
rs201618781	p.Arg51Leu	missense variant	-	NC_000001.11:g.11802965C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754980119	p.Arg52Gln	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802962C>T	UniProt,dbSNP
VAR_004319	p.Arg52Gln	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802962C>T	UniProt
rs754980119	p.Arg52Gln	missense variant	-	NC_000001.11:g.11802962C>T	ExAC,TOPMed,gnomAD
rs754980119	p.Arg52Pro	missense variant	-	NC_000001.11:g.11802962C>G	ExAC,TOPMed,gnomAD
rs986604359	p.Arg52Ter	stop gained	-	NC_000001.11:g.11802963G>A	-
RCV000625848	p.Arg52Ter	nonsense	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802963G>A	ClinVar
rs1196257926	p.Glu54Lys	missense variant	-	NC_000001.11:g.11802957C>T	TOPMed,gnomAD
rs766295185	p.Gly56Ala	missense variant	-	NC_000001.11:g.11802950C>G	ExAC,gnomAD
rs755932641	p.Asp57Asn	missense variant	-	NC_000001.11:g.11802948C>T	ExAC,TOPMed,gnomAD
rs750677509	p.Lys58Gln	missense variant	-	NC_000001.11:g.11802945T>G	ExAC,gnomAD
rs767789270	p.Trp59Cys	missense variant	-	NC_000001.11:g.11802940C>A	ExAC,gnomAD
rs786204007	p.Trp59Ter	stop gained	-	NC_000001.11:g.11802941C>T	TOPMed,gnomAD
rs786204007	p.Trp59Ser	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802941C>G	UniProt,dbSNP
VAR_074113	p.Trp59Ser	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802941C>G	UniProt
rs786204007	p.Trp59Ser	missense variant	-	NC_000001.11:g.11802941C>G	TOPMed,gnomAD
RCV000167588	p.Trp59Ser	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802941C>G	ClinVar
rs774531580	p.Glu63Lys	missense variant	-	NC_000001.11:g.11802930C>T	ExAC,gnomAD
rs1305385953	p.Phe65Leu	missense variant	-	NC_000001.11:g.11802924A>G	TOPMed
rs796064512	p.Pro66Leu	missense variant	-	NC_000001.11:g.11802920G>A	-
RCV000190392	p.Pro66Leu	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802920G>A	ClinVar
rs763539350	p.Arg68Ter	stop gained	-	NC_000001.11:g.11802915G>A	ExAC,TOPMed,gnomAD
rs2066472	p.Arg68Gln	missense variant	-	NC_000001.11:g.11802914C>T	ExAC,TOPMed,gnomAD
RCV000167589	p.Arg68Gly	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802915G>C	ClinVar
rs763539350	p.Arg68Gly	missense variant	-	NC_000001.11:g.11802915G>C	ExAC,TOPMed,gnomAD
rs770151367	p.Thr69Ala	missense variant	-	NC_000001.11:g.11802912T>C	ExAC,gnomAD
rs746177570	p.Thr69Ile	missense variant	-	NC_000001.11:g.11802911G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly72Ter	stop gained	-	NC_000001.11:g.11802903C>A	NCI-TCGA
rs1347839321	p.Ile77Val	missense variant	-	NC_000001.11:g.11802888T>C	gnomAD
rs776969786	p.Ser78Leu	missense variant	-	NC_000001.11:g.11802884G>A	ExAC,TOPMed,gnomAD
rs776969786	p.Ser78Ter	stop gained	-	NC_000001.11:g.11802884G>C	ExAC,TOPMed,gnomAD
RCV000625779	p.Arg79Ser	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801399C>A	ClinVar
rs1553187509	p.Arg79Ser	missense variant	-	NC_000001.11:g.11801399C>A	-
rs541505625	p.Phe80Leu	missense variant	-	NC_000001.11:g.11801396A>C	1000Genomes
rs1261482213	p.Asp81Gly	missense variant	-	NC_000001.11:g.11801394T>C	gnomAD
rs786204009	p.Arg82Trp	missense variant	-	NC_000001.11:g.11801392G>A	-
rs786204009	p.Arg82Trp	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801392G>A	UniProt,dbSNP
VAR_074115	p.Arg82Trp	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801392G>A	UniProt
rs778417385	p.Arg82Gln	missense variant	-	NC_000001.11:g.11801391C>T	ExAC,TOPMed,gnomAD
RCV000167590	p.Arg82Trp	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801392G>A	ClinVar
rs1426036757	p.Met83Thr	missense variant	-	NC_000001.11:g.11801388A>G	TOPMed
RCV000692160	p.Met83Thr	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801388A>G	ClinVar
NCI-TCGA novel	p.Ala85Gly	missense variant	-	NC_000001.11:g.11801382G>C	NCI-TCGA
rs1446205816	p.Gly86Val	missense variant	-	NC_000001.11:g.11801379C>A	gnomAD
rs145302631	p.Gly87Asp	missense variant	-	NC_000001.11:g.11801376C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1042792109	p.Leu89Val	missense variant	-	NC_000001.11:g.11801371G>C	TOPMed
rs761545364	p.Ile91Val	missense variant	-	NC_000001.11:g.11801365T>C	ExAC,gnomAD
rs1239688333	p.Val93Met	missense variant	-	NC_000001.11:g.11801359C>T	TOPMed
rs1338194007	p.Trp95Cys	missense variant	-	NC_000001.11:g.11801351C>G	TOPMed
rs1345151194	p.His96Tyr	missense variant	-	NC_000001.11:g.11801350G>A	gnomAD
rs1296179669	p.Asp100Asn	missense variant	-	NC_000001.11:g.11801338C>T	gnomAD
COSM4870673	p.Asp104Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11801326C>A	NCI-TCGA Cosmic
rs779696019	p.Lys105Arg	missense variant	-	NC_000001.11:g.11801322T>C	ExAC,TOPMed,gnomAD
rs1304056030	p.Ser108Thr	missense variant	-	NC_000001.11:g.11801314A>T	gnomAD
rs745779146	p.Ser109Phe	missense variant	-	NC_000001.11:g.11801310G>A	ExAC,gnomAD
rs1314255798	p.Met110Leu	missense variant	-	NC_000001.11:g.11801308T>G	TOPMed
rs781158269	p.Met110Ile	missense variant	-	NC_000001.11:g.11801306C>G	ExAC,TOPMed,gnomAD
rs1314255798	p.Met110Val	missense variant	-	NC_000001.11:g.11801308T>C	TOPMed
rs577135269	p.Met111Ile	missense variant	-	NC_000001.11:g.11801303C>G	1000Genomes,ExAC,gnomAD
rs756962297	p.Met111Thr	missense variant	-	NC_000001.11:g.11801304A>G	ExAC,gnomAD
COSM162598	p.Met111Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11801303C>T	NCI-TCGA Cosmic
rs1421914910	p.Ile112Val	missense variant	-	NC_000001.11:g.11801302T>C	gnomAD
rs147257424	p.Ala113Pro	missense variant	-	NC_000001.11:g.11801299C>G	ESP,ExAC,TOPMed,gnomAD
rs147257424	p.Ala113Ser	missense variant	-	NC_000001.11:g.11801299C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala113Val	missense variant	-	NC_000001.11:g.11801298G>A	NCI-TCGA
rs147257424	p.Ala113Thr	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801299C>T	UniProt,dbSNP
VAR_074116	p.Ala113Thr	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801299C>T	UniProt
rs147257424	p.Ala113Thr	missense variant	-	NC_000001.11:g.11801299C>T	ESP,ExAC,TOPMed,gnomAD
RCV000167592	p.Ala113Thr	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801299C>T	ClinVar
rs1199277582	p.Ser114Gly	missense variant	-	NC_000001.11:g.11801296T>C	TOPMed,gnomAD
rs1056919085	p.Ala116Thr	missense variant	-	NC_000001.11:g.11801290C>T	TOPMed
rs1163498568	p.Val117Ala	missense variant	-	NC_000001.11:g.11801286A>G	TOPMed
rs1200746244	p.Val117Met	missense variant	-	NC_000001.11:g.11801287C>T	gnomAD
rs1276034428	p.Tyr119Ser	missense variant	-	NC_000001.11:g.11801280T>G	TOPMed,gnomAD
rs1276034428	p.Tyr119Phe	missense variant	-	NC_000001.11:g.11801280T>A	TOPMed,gnomAD
rs576446829	p.Cys120Trp	missense variant	-	NC_000001.11:g.11801276A>C	1000Genomes,TOPMed
rs774066396	p.Cys120Tyr	missense variant	-	NC_000001.11:g.11801277C>T	ExAC,gnomAD
rs1314724398	p.Glu123Asp	missense variant	-	NC_000001.11:g.11801267C>G	gnomAD
rs768248826	p.Thr124Ile	missense variant	-	NC_000001.11:g.11801265G>A	ExAC,gnomAD
rs768248826	p.Thr124Ser	missense variant	-	NC_000001.11:g.11801265G>C	ExAC,gnomAD
RCV000317405	p.Thr124Ser	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11801265G>C	ClinVar
rs762688654	p.Ile125Val	missense variant	-	NC_000001.11:g.11801263T>C	ExAC,gnomAD
RCV000167593	p.His127Tyr	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801257G>A	ClinVar
rs769381688	p.His127Tyr	missense variant	-	NC_000001.11:g.11801257G>A	ExAC,gnomAD
rs769381688	p.His127Tyr	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801257G>A	UniProt,dbSNP
VAR_074117	p.His127Tyr	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801257G>A	UniProt
rs202095816	p.Met128Val	missense variant	-	NC_000001.11:g.11801254T>C	1000Genomes,ExAC,TOPMed,gnomAD
VAR_074118	p.Thr129Asn	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
RCV000167594	p.Cys130Arg	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801248A>G	ClinVar
rs786204012	p.Cys130Arg	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801248A>G	UniProt,dbSNP
VAR_074119	p.Cys130Arg	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801248A>G	UniProt
rs786204012	p.Cys130Arg	missense variant	-	NC_000001.11:g.11801248A>G	TOPMed
rs1423805621	p.Arg132Gly	missense variant	-	NC_000001.11:g.11801242G>C	TOPMed,gnomAD
rs149514973	p.Arg132His	missense variant	-	NC_000001.11:g.11801241C>T	ESP,ExAC,TOPMed,gnomAD
rs1423805621	p.Arg132Cys	missense variant	-	NC_000001.11:g.11801242G>A	TOPMed,gnomAD
rs370713424	p.Arg134Leu	missense variant	-	NC_000001.11:g.11801235C>A	ESP,ExAC,TOPMed,gnomAD
rs370713424	p.Arg134His	missense variant	-	NC_000001.11:g.11801235C>T	ESP,ExAC,TOPMed,gnomAD
rs45550133	p.Arg134Cys	missense variant	-	NC_000001.11:g.11801236G>A	ExAC,TOPMed,gnomAD
COSM414145	p.Glu136Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11801230C>T	NCI-TCGA Cosmic
rs778983789	p.Glu137Gly	missense variant	-	NC_000001.11:g.11801226T>C	ExAC,gnomAD
rs1057519360	p.Thr139Met	missense variant	-	NC_000001.11:g.11801220G>A	TOPMed,gnomAD
RCV000416816	p.Thr139Met	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801220G>A	ClinVar
COSM3417941	p.Gly140Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11801217C>T	NCI-TCGA Cosmic
rs761230732	p.Leu142Pro	missense variant	-	NC_000001.11:g.11801211A>G	ExAC,TOPMed,gnomAD
rs761230732	p.Leu142Arg	missense variant	-	NC_000001.11:g.11801211A>C	ExAC,TOPMed,gnomAD
rs965403404	p.Lys144Glu	missense variant	-	NC_000001.11:g.11801206T>C	TOPMed,gnomAD
rs559073730	p.Lys146Asn	missense variant	-	NC_000001.11:g.11801198C>G	TOPMed
RCV000167595	p.Gln147Pro	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801196T>G	ClinVar
rs786204013	p.Gln147Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801196T>G	UniProt,dbSNP
VAR_074120	p.Gln147Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801196T>G	UniProt
rs786204013	p.Gln147Pro	missense variant	-	NC_000001.11:g.11801196T>G	-
NCI-TCGA novel	p.Leu148Arg	missense variant	-	NC_000001.11:g.11801193A>C	NCI-TCGA
rs1018189670	p.Gly149Asp	missense variant	-	NC_000001.11:g.11801190C>T	TOPMed
VAR_074121	p.Gly149Val	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
rs767890671	p.Ile153Met	missense variant	-	NC_000001.11:g.11801177G>C	ExAC,TOPMed,gnomAD
rs767890671	p.Ile153Met	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801177G>C	UniProt,dbSNP
VAR_074122	p.Ile153Met	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801177G>C	UniProt
rs1006833485	p.Ile153Phe	missense variant	-	NC_000001.11:g.11801179T>A	TOPMed
rs762719063	p.Met154Thr	missense variant	-	NC_000001.11:g.11801175A>G	ExAC,gnomAD
rs775245791	p.Ala155Val	missense variant	-	NC_000001.11:g.11801172G>A	ExAC,TOPMed,gnomAD
rs121434295	p.Arg157Gln	missense variant	-	NC_000001.11:g.11801166C>T	ExAC,TOPMed,gnomAD
rs121434295	p.Arg157Gln	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801166C>T	UniProt,dbSNP
VAR_004320	p.Arg157Gln	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801166C>T	UniProt
rs776195746	p.Arg157Trp	missense variant	-	NC_000001.11:g.11801167G>A	ExAC,gnomAD
RCV000003696	p.Arg157Gln	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11801166C>T	ClinVar
rs772932189	p.Gly158Glu	missense variant	-	NC_000001.11:g.11801163C>T	ExAC,TOPMed,gnomAD
COSM4868230	p.Gly158Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.11801164C>A	NCI-TCGA Cosmic
rs138524217	p.Asp159Asn	missense variant	-	NC_000001.11:g.11801161C>T	ESP,ExAC,TOPMed,gnomAD
rs1300017706	p.Ile161Val	missense variant	-	NC_000001.11:g.11800317T>C	TOPMed
rs1460500942	p.Asp163Tyr	missense variant	-	NC_000001.11:g.11800311C>A	TOPMed
rs1373074715	p.Asp163Gly	missense variant	-	NC_000001.11:g.11800310T>C	TOPMed
rs774118546	p.Trp165Ter	stop gained	-	NC_000001.11:g.11800303C>T	ExAC,gnomAD
rs768932563	p.Glu169Asp	missense variant	-	NC_000001.11:g.11800291C>G	ExAC,gnomAD
rs1164755333	p.Gly170Arg	missense variant	-	NC_000001.11:g.11800290C>G	TOPMed
COSM3801445	p.Gly170Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11800289C>T	NCI-TCGA Cosmic
rs1341453283	p.Gly171Ala	missense variant	-	NC_000001.11:g.11800286C>G	gnomAD
rs1398686840	p.Phe172Ser	missense variant	-	NC_000001.11:g.11800283A>G	gnomAD
rs1334889051	p.Asn173Ser	missense variant	-	NC_000001.11:g.11800280T>C	gnomAD
rs1182635980	p.Ala175Thr	missense variant	-	NC_000001.11:g.11800275C>T	TOPMed
NCI-TCGA novel	p.Val176Ala	missense variant	-	NC_000001.11:g.11800271A>G	NCI-TCGA
rs1172158928	p.Asp177His	missense variant	-	NC_000001.11:g.11800269C>G	gnomAD
rs1424071829	p.Val179Met	missense variant	-	NC_000001.11:g.11800263C>T	gnomAD
rs1424071829	p.Val179Leu	missense variant	-	NC_000001.11:g.11800263C>A	gnomAD
rs781742574	p.Ile182Val	missense variant	-	NC_000001.11:g.11800254T>C	ExAC,gnomAD
rs121434294	p.Arg183Ter	stop gained	-	NC_000001.11:g.11800251G>A	-
RCV000003695	p.Arg183Ter	nonsense	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11800251G>A	ClinVar
rs574132670	p.Arg183Gln	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11800250C>T	UniProt,dbSNP
VAR_074124	p.Arg183Gln	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11800250C>T	UniProt
rs574132670	p.Arg183Gln	missense variant	-	NC_000001.11:g.11800250C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4875648	p.Arg183Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11800250C>A	NCI-TCGA Cosmic
RCV000167596	p.Arg183Gln	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11800250C>T	ClinVar
rs752039471	p.Ser184Ile	missense variant	-	NC_000001.11:g.11800247C>A	ExAC,gnomAD
rs764524250	p.Phe186Ser	missense variant	-	NC_000001.11:g.11800241A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp188His	missense variant	-	NC_000001.11:g.11800236C>G	NCI-TCGA
rs1202625373	p.Asp188Asn	missense variant	-	NC_000001.11:g.11800236C>T	gnomAD
rs555964132	p.Tyr189Ser	missense variant	-	NC_000001.11:g.11800232T>G	1000Genomes,ExAC,gnomAD
rs765834557	p.Ile192Thr	missense variant	-	NC_000001.11:g.11800223A>G	ExAC,TOPMed,gnomAD
rs1258318951	p.Ile192Val	missense variant	-	NC_000001.11:g.11800224T>C	gnomAD
rs1285236808	p.Val194Met	missense variant	-	NC_000001.11:g.11800218C>T	gnomAD
rs1285236808	p.Val194Leu	missense variant	-	NC_000001.11:g.11800218C>A	gnomAD
rs760161369	p.Ala195Gly	missense variant	-	NC_000001.11:g.11800214G>C	ExAC,gnomAD
rs760161369	p.Ala195Val	missense variant	-	NC_000001.11:g.11800214G>A	ExAC,gnomAD
RCV000167597	p.Gly196Asp	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796399C>T	ClinVar
rs786204014	p.Gly196Asp	missense variant	-	NC_000001.11:g.11796399C>T	-
rs786204014	p.Gly196Asp	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796399C>T	UniProt,dbSNP
VAR_074126	p.Gly196Asp	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796399C>T	UniProt
rs776901659	p.Tyr197Asp	missense variant	-	NC_000001.11:g.11796397A>C	ExAC,gnomAD
rs771090648	p.Tyr197Phe	missense variant	-	NC_000001.11:g.11796396T>A	ExAC
NCI-TCGA novel	p.Tyr197Cys	missense variant	-	NC_000001.11:g.11796396T>C	NCI-TCGA
rs1291640722	p.Pro198Ala	missense variant	-	NC_000001.11:g.11796394G>C	gnomAD
rs747554082	p.Lys199Gln	missense variant	-	NC_000001.11:g.11796391T>G	ExAC
rs778353903	p.Gly200Ser	missense variant	-	NC_000001.11:g.11796388C>T	ExAC
rs1057519361	p.Pro202Thr	missense variant	-	NC_000001.11:g.11796382G>T	-
RCV000416935	p.Pro202Thr	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796382G>T	ClinVar
rs1188522801	p.Pro202Arg	missense variant	-	NC_000001.11:g.11796381G>C	TOPMed
rs1018203291	p.Glu203Lys	missense variant	-	NC_000001.11:g.11796379C>T	TOPMed,gnomAD
rs1391033297	p.Gly205Glu	missense variant	-	NC_000001.11:g.11796372C>T	gnomAD
rs748601308	p.Gly205Arg	missense variant	-	NC_000001.11:g.11796373C>G	ExAC,TOPMed,gnomAD
rs1293871926	p.Ser206Asn	missense variant	-	NC_000001.11:g.11796369C>T	gnomAD
rs755829023	p.Ser206Arg	missense variant	-	NC_000001.11:g.11796368G>T	ExAC,gnomAD
rs1363516407	p.Glu208Lys	missense variant	-	NC_000001.11:g.11796364C>T	gnomAD
rs1302392264	p.Asp210His	missense variant	-	NC_000001.11:g.11796358C>G	gnomAD
rs780701935	p.His213Arg	missense variant	-	NC_000001.11:g.11796348T>C	ExAC,TOPMed,gnomAD
VAR_074127	p.Lys215del	inframe_deletion	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
NCI-TCGA novel	p.Lys217Arg	missense variant	-	NC_000001.11:g.11796336T>C	NCI-TCGA
rs1418131798	p.Val218Ala	missense variant	-	NC_000001.11:g.11796333A>G	gnomAD
VAR_074128	p.Val218Leu	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
rs751512280	p.Ser219Cys	missense variant	-	NC_000001.11:g.11796330G>C	ExAC,gnomAD
rs144920629	p.Ala220Val	missense variant	-	NC_000001.11:g.11796327G>A	ESP,ExAC,gnomAD
rs45438591	p.Gly221Arg	missense variant	-	NC_000001.11:g.11796325C>T	ExAC,gnomAD
RCV000416691	p.Gly221Ter	frameshift	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796326del	ClinVar
rs1801133	p.Ala222Val	missense variant	-	NC_000001.11:g.11796321G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000428048	p.Ala222Val	missense variant	-	NC_000001.11:g.11796321G>A	ClinVar
rs150847674	p.Asp223Asn	missense variant	-	NC_000001.11:g.11796319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000595772	p.Asp223Asn	missense variant	-	NC_000001.11:g.11796319C>T	ClinVar
rs200100285	p.Ile225Leu	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796313T>G	UniProt,dbSNP
VAR_074129	p.Ile225Leu	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796313T>G	UniProt
rs200100285	p.Ile225Leu	missense variant	-	NC_000001.11:g.11796313T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000361645	p.Ile225Val	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11796313T>C	ClinVar
RCV000167599	p.Ile225Leu	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796313T>G	ClinVar
rs200100285	p.Ile225Val	missense variant	-	NC_000001.11:g.11796313T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773410203	p.Ile226Val	missense variant	-	NC_000001.11:g.11796310T>C	ExAC,gnomAD
rs1217691063	p.Ile226Thr	missense variant	-	NC_000001.11:g.11796309A>G	gnomAD
VAR_074130	p.Ile226del	inframe_deletion	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
rs748571395	p.Thr227Met	missense variant	-	NC_000001.11:g.11796306G>A	ExAC,TOPMed,gnomAD
rs1362436529	p.Leu229Pro	missense variant	-	NC_000001.11:g.11796300A>G	gnomAD
NCI-TCGA novel	p.Phe230Leu	missense variant	-	NC_000001.11:g.11796296G>T	NCI-TCGA
rs45589033	p.Asp234Asn	missense variant	-	NC_000001.11:g.11796286C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000642248	p.Asp234Asn	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796286C>T	ClinVar
rs780767010	p.Thr235Ile	missense variant	-	NC_000001.11:g.11796282G>A	ExAC,gnomAD
rs1177716874	p.Thr235Ala	missense variant	-	NC_000001.11:g.11796283T>C	gnomAD
NCI-TCGA novel	p.Thr235Arg	missense variant	-	NC_000001.11:g.11796282G>C	NCI-TCGA
rs34279942	p.Phe236Leu	missense variant	-	NC_000001.11:g.11796278G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758413827	p.Phe237Leu	missense variant	-	NC_000001.11:g.11796275G>C	ExAC,gnomAD
rs1194897557	p.Phe237Ser	missense variant	-	NC_000001.11:g.11796276A>G	TOPMed,gnomAD
rs138760604	p.Arg238His	missense variant	-	NC_000001.11:g.11796273C>T	ESP,ExAC,TOPMed,gnomAD
rs377571071	p.Arg238Cys	missense variant	-	NC_000001.11:g.11796274G>A	ESP,ExAC,TOPMed,gnomAD
rs190090719	p.Phe239Leu	missense variant	-	NC_000001.11:g.11796271A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys241Asn	missense variant	-	NC_000001.11:g.11796263C>A	NCI-TCGA
rs754122249	p.Ala242Ser	missense variant	-	NC_000001.11:g.11796262C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala242Glu	missense variant	-	NC_000001.11:g.11796261G>T	NCI-TCGA
NCI-TCGA novel	p.Ala242Pro	missense variant	-	NC_000001.11:g.11796262C>G	NCI-TCGA
NCI-TCGA novel	p.Ala242Val	missense variant	-	NC_000001.11:g.11796261G>A	NCI-TCGA
rs760971789	p.Cys243Gly	missense variant	-	NC_000001.11:g.11796259A>C	ExAC,gnomAD
rs140241283	p.Met246Lys	missense variant	-	NC_000001.11:g.11796249A>T	ESP,ExAC,gnomAD
rs140241283	p.Met246Thr	missense variant	-	NC_000001.11:g.11796249A>G	ESP,ExAC,gnomAD
rs762403278	p.Ile248Val	missense variant	-	NC_000001.11:g.11796244T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile248Met	missense variant	-	NC_000001.11:g.11796242G>C	NCI-TCGA
rs762403278	p.Ile248Leu	missense variant	-	NC_000001.11:g.11796244T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr249Pro	missense variant	-	NC_000001.11:g.11796241T>G	NCI-TCGA
rs774681018	p.Pro251Ser	missense variant	-	NC_000001.11:g.11796235G>A	ExAC,gnomAD
VAR_004322	p.Pro251Leu	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
rs200056619	p.Val253Ile	missense variant	-	NC_000001.11:g.11796229C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAR_074131	p.Val253Phe	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
rs786204017	p.Pro254Ser	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796226G>A	UniProt,dbSNP
VAR_074132	p.Pro254Ser	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796226G>A	UniProt
rs786204017	p.Pro254Ser	missense variant	-	NC_000001.11:g.11796226G>A	gnomAD
RCV000167601	p.Pro254Ser	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796226G>A	ClinVar
rs786204017	p.Pro254Ala	missense variant	-	NC_000001.11:g.11796226G>C	gnomAD
rs786204018	p.Gly255Val	missense variant	-	NC_000001.11:g.11796222C>A	-
rs786204018	p.Gly255Val	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796222C>A	UniProt,dbSNP
VAR_074133	p.Gly255Val	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796222C>A	UniProt
RCV000167602	p.Gly255Val	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796222C>A	ClinVar
rs775829502	p.Gly255Arg	missense variant	-	NC_000001.11:g.11796223C>T	ExAC,gnomAD
RCV000167603	p.Ile256Asn	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796219A>T	ClinVar
rs373398993	p.Ile256Asn	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796219A>T	UniProt,dbSNP
VAR_074134	p.Ile256Asn	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796219A>T	UniProt
rs373398993	p.Ile256Asn	missense variant	-	NC_000001.11:g.11796219A>T	ESP,ExAC,TOPMed,gnomAD
rs786204019	p.Phe257Val	missense variant	-	NC_000001.11:g.11796217A>C	TOPMed
rs786204019	p.Phe257Val	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796217A>C	UniProt,dbSNP
VAR_074135	p.Phe257Val	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796217A>C	UniProt
RCV000167604	p.Phe257Val	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796217A>C	ClinVar
rs1553186124	p.Pro258Arg	missense variant	-	NC_000001.11:g.11796213G>C	-
NCI-TCGA novel	p.Pro258His	missense variant	-	NC_000001.11:g.11796213G>T	NCI-TCGA
RCV000508460	p.Pro258Arg	missense variant	-	NC_000001.11:g.11796213G>C	ClinVar
rs1317859869	p.Ile259Met	missense variant	-	NC_000001.11:g.11796209G>C	TOPMed
NCI-TCGA novel	p.Ile259Asn	missense variant	-	NC_000001.11:g.11796210A>T	NCI-TCGA
rs747665983	p.Gly261Val	missense variant	-	NC_000001.11:g.11795347C>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr262Ser	missense variant	-	NC_000001.11:g.11795344T>G	NCI-TCGA
rs1180379572	p.Tyr262Cys	missense variant	-	NC_000001.11:g.11795344T>C	TOPMed
rs774637461	p.His263Gln	missense variant	-	NC_000001.11:g.11795340G>C	ExAC,TOPMed,gnomAD
rs142612062	p.His263Pro	missense variant	-	NC_000001.11:g.11795341T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000320382	p.His263Pro	missense variant	-	NC_000001.11:g.11795341T>G	ClinVar
COSM271400	p.His263Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11795340G>T	NCI-TCGA Cosmic
rs1333673915	p.Arg266Trp	missense variant	-	NC_000001.11:g.11795333G>A	TOPMed,gnomAD
rs571238208	p.Arg266Gln	missense variant	-	NC_000001.11:g.11795332C>T	ExAC,TOPMed,gnomAD
rs1001575872	p.Gln267Lys	missense variant	-	NC_000001.11:g.11795330G>T	TOPMed
rs559501574	p.Leu268Phe	missense variant	-	NC_000001.11:g.11795327G>A	1000Genomes,ExAC,gnomAD
rs1393335339	p.Val269Leu	missense variant	-	NC_000001.11:g.11795324C>G	TOPMed,gnomAD
rs1393335339	p.Val269Met	missense variant	-	NC_000001.11:g.11795324C>T	NCI-TCGA Cosmic
rs1393335339	p.Val269Met	missense variant	-	NC_000001.11:g.11795324C>T	TOPMed,gnomAD
rs750661990	p.Leu271Val	missense variant	-	NC_000001.11:g.11795318G>C	ExAC,gnomAD
rs1160573823	p.Ser272Phe	missense variant	-	NC_000001.11:g.11795314G>A	gnomAD
NCI-TCGA novel	p.Ser272Pro	missense variant	-	NC_000001.11:g.11795315A>G	NCI-TCGA
RCV000591467	p.Ser272Phe	missense variant	-	NC_000001.11:g.11795314G>A	ClinVar
rs1299393149	p.Glu275Lys	missense variant	-	NC_000001.11:g.11795306C>T	TOPMed
rs1443866504	p.Gln278Ter	stop gained	-	NC_000001.11:g.11795297G>A	TOPMed
rs147750177	p.Glu279Ter	stop gained	-	NC_000001.11:g.11795294C>A	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Glu279Asp	missense variant	-	NC_000001.11:g.11795292C>A	NCI-TCGA
rs965263063	p.Ile280Met	missense variant	-	NC_000001.11:g.11795289G>C	TOPMed,gnomAD
rs547583387	p.Val283Met	missense variant	-	NC_000001.11:g.11795282C>T	NCI-TCGA,NCI-TCGA Cosmic
rs547583387	p.Val283Met	missense variant	-	NC_000001.11:g.11795282C>T	1000Genomes,ExAC,gnomAD
rs1163792757	p.Ile284Met	missense variant	-	NC_000001.11:g.11795277A>C	TOPMed
rs763476837	p.Ile284Thr	missense variant	-	NC_000001.11:g.11795278A>G	ExAC,TOPMed,gnomAD
rs372258648	p.Glu285Gln	missense variant	-	NC_000001.11:g.11795276C>G	ESP,ExAC,TOPMed,gnomAD
rs372258648	p.Glu285Lys	missense variant	-	NC_000001.11:g.11795276C>T	ESP,ExAC,TOPMed,gnomAD
RCV000312218	p.Glu285Lys	missense variant	-	NC_000001.11:g.11795276C>T	ClinVar
rs1286086809	p.Pro286Thr	missense variant	-	NC_000001.11:g.11795273G>T	gnomAD
rs1224922440	p.Ile287Val	missense variant	-	NC_000001.11:g.11795270T>C	gnomAD
rs139786244	p.Asp289Glu	missense variant	-	NC_000001.11:g.11795262G>T	ESP,ExAC,TOPMed,gnomAD
RCV000357793	p.Asp289Glu	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11795262G>T	ClinVar
rs368735885	p.Asn290Asp	missense variant	-	NC_000001.11:g.11795261T>C	ESP,ExAC,TOPMed,gnomAD
rs141769179	p.Asn290Lys	missense variant	-	NC_000001.11:g.11795259G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771684838	p.Asp291Asn	missense variant	-	NC_000001.11:g.11795258C>T	ExAC,gnomAD
rs771684838	p.Asp291Asn	missense variant	-	NC_000001.11:g.11795258C>T	NCI-TCGA
rs774051572	p.Ala292Val	missense variant	-	NC_000001.11:g.11795254G>A	ExAC,gnomAD
rs749267753	p.Ile294Thr	missense variant	-	NC_000001.11:g.11795248A>G	ExAC,TOPMed,gnomAD
rs1398982560	p.Arg295Cys	missense variant	-	NC_000001.11:g.11795246G>A	gnomAD
COSM462719	p.Arg295Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11795245C>A	NCI-TCGA Cosmic
COSM5825108	p.Arg295His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11795245C>T	NCI-TCGA Cosmic
rs141237767	p.Asn296Ile	missense variant	-	NC_000001.11:g.11795242T>A	1000Genomes,ExAC,gnomAD
rs1479160387	p.Tyr297His	missense variant	-	NC_000001.11:g.11795240A>G	gnomAD
rs367992906	p.Tyr297Ter	stop gained	-	NC_000001.11:g.11795238A>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly298Asp	missense variant	-	NC_000001.11:g.11795236C>T	NCI-TCGA
rs745716822	p.Gly298Ser	missense variant	-	NC_000001.11:g.11795237C>T	ExAC,gnomAD
rs1052666226	p.Glu300Lys	missense variant	-	NC_000001.11:g.11795231C>T	TOPMed
rs747207640	p.Ala302Val	missense variant	-	NC_000001.11:g.11795224G>A	ExAC,gnomAD
rs143466425	p.Val303Met	missense variant	-	NC_000001.11:g.11795222C>T	ESP,ExAC,TOPMed,gnomAD
rs765794603	p.Ala311Asp	missense variant	-	NC_000001.11:g.11795197G>T	ExAC,TOPMed,gnomAD
rs200890679	p.Gly313Ala	missense variant	-	NC_000001.11:g.11795191C>G	ExAC,TOPMed,gnomAD
rs766741086	p.Pro316Leu	missense variant	-	NC_000001.11:g.11795182G>A	ExAC,TOPMed,gnomAD
rs1429249641	p.Leu318Val	missense variant	-	NC_000001.11:g.11795177G>C	TOPMed,gnomAD
rs761392430	p.Leu318His	missense variant	-	NC_000001.11:g.11795176A>T	ExAC,gnomAD
rs1429249641	p.Leu318Phe	missense variant	-	NC_000001.11:g.11795177G>A	TOPMed,gnomAD
rs774104819	p.His319Tyr	missense variant	-	NC_000001.11:g.11795174G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr322Ser	missense variant	-	NC_000001.11:g.11795164G>C	NCI-TCGA
rs121434297	p.Leu323Pro	missense variant	-	NC_000001.11:g.11795161A>G	ExAC,gnomAD
rs121434297	p.Leu323Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795161A>G	UniProt,dbSNP
VAR_009531	p.Leu323Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795161A>G	UniProt
RCV000003707	p.Leu323Pro	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11795161A>G	ClinVar
rs267606887	p.Asn324Ser	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795158T>C	UniProt,dbSNP
VAR_009532	p.Asn324Ser	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795158T>C	UniProt
rs267606887	p.Asn324Ser	missense variant	-	NC_000001.11:g.11795158T>C	-
RCV000003700	p.Asn324Ser	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11795158T>C	ClinVar
rs56182143	p.Arg325His	missense variant	-	NC_000001.11:g.11795155C>T	ExAC,TOPMed,gnomAD
rs371085894	p.Arg325Cys	missense variant	-	NC_000001.11:g.11795156G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371085894	p.Arg325Cys	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795156G>A	UniProt,dbSNP
VAR_004323	p.Arg325Cys	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795156G>A	UniProt
rs777918196	p.Glu326Ter	stop gained	-	NC_000001.11:g.11795153C>A	ExAC,TOPMed,gnomAD
rs777918196	p.Glu326Lys	missense variant	-	NC_000001.11:g.11795153C>T	ExAC,TOPMed,gnomAD
rs1202644044	p.Val332Leu	missense variant	-	NC_000001.11:g.11795135C>A	gnomAD
rs543016186	p.Arg335His	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795125C>T	UniProt,dbSNP
VAR_074136	p.Arg335His	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795125C>T	UniProt
rs543016186	p.Arg335Pro	missense variant	-	NC_000001.11:g.11795125C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs543016186	p.Arg335His	missense variant	-	NC_000001.11:g.11795125C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748289202	p.Arg335Cys	missense variant	-	NC_000001.11:g.11795126G>A	ExAC,TOPMed,gnomAD
RCV000167606	p.Arg335His	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11795125C>T	ClinVar
rs1214062050	p.Gly337Arg	missense variant	-	NC_000001.11:g.11795120C>T	TOPMed
rs1285327482	p.Gly337Glu	missense variant	-	NC_000001.11:g.11795119C>T	TOPMed,gnomAD
rs959908870	p.Met338Leu	missense variant	-	NC_000001.11:g.11795117T>G	TOPMed
rs766683363	p.Met338Ile	missense variant	-	NC_000001.11:g.11795115C>T	ExAC,gnomAD
rs368321176	p.Met338Thr	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795116A>G	UniProt,dbSNP
VAR_074137	p.Met338Thr	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795116A>G	UniProt
rs368321176	p.Met338Thr	missense variant	-	NC_000001.11:g.11795116A>G	ESP,ExAC,TOPMed,gnomAD
rs1400753058	p.Trp339Ter	stop gained	-	NC_000001.11:g.11795113C>T	gnomAD
rs375607927	p.Trp339Ter	stop gained	-	NC_000001.11:g.11795112C>T	ESP,ExAC,gnomAD
RCV000003701	p.Trp339Gly	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11795114A>C	ClinVar
rs267606886	p.Trp339Gly	missense variant	-	NC_000001.11:g.11795114A>C	-
rs267606886	p.Trp339Gly	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795114A>C	UniProt,dbSNP
VAR_009533	p.Trp339Gly	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795114A>C	UniProt
rs751268792	p.Thr340Ser	missense variant	-	NC_000001.11:g.11795110G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp342Asn	missense variant	-	NC_000001.11:g.11795105C>T	NCI-TCGA
rs763896620	p.Asp342Glu	missense variant	-	NC_000001.11:g.11795103G>T	ExAC,gnomAD
rs762663885	p.Pro343Ala	missense variant	-	NC_000001.11:g.11795102G>C	ExAC,TOPMed,gnomAD
rs775190420	p.Pro343Leu	missense variant	-	NC_000001.11:g.11795101G>A	ExAC,TOPMed,gnomAD
rs762663885	p.Pro343Ser	missense variant	-	NC_000001.11:g.11795102G>A	ExAC,TOPMed,gnomAD
rs759031330	p.Arg345Cys	missense variant	-	NC_000001.11:g.11794862G>A	ExAC
rs753278299	p.Arg345His	missense variant	-	NC_000001.11:g.11794861C>T	ExAC,gnomAD
rs753278299	p.Arg345His	missense variant	-	NC_000001.11:g.11794861C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000179910	p.Arg345His	missense variant	-	NC_000001.11:g.11794861C>T	ClinVar
RCV000416797	p.Arg345Cys	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794862G>A	ClinVar
rs766410193	p.Pro346Arg	missense variant	-	NC_000001.11:g.11794858G>C	ExAC,gnomAD
rs786204021	p.Pro348Ser	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794853G>A	UniProt,dbSNP
VAR_074138	p.Pro348Ser	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794853G>A	UniProt
rs786204021	p.Pro348Ser	missense variant	-	NC_000001.11:g.11794853G>A	-
RCV000167607	p.Pro348Ser	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794853G>A	ClinVar
rs1333598161	p.Ala350Thr	missense variant	-	NC_000001.11:g.11794847C>T	TOPMed
rs760570032	p.Ala350Asp	missense variant	-	NC_000001.11:g.11794846G>T	ExAC,gnomAD
rs760570032	p.Ala350Gly	missense variant	-	NC_000001.11:g.11794846G>C	ExAC,gnomAD
rs1048531030	p.Ser352Asn	missense variant	-	NC_000001.11:g.11794840C>T	TOPMed,gnomAD
rs1048531030	p.Ser352Ile	missense variant	-	NC_000001.11:g.11794840C>A	TOPMed,gnomAD
rs771802611	p.Ala353Thr	missense variant	-	NC_000001.11:g.11794838C>T	ExAC,TOPMed,gnomAD
rs786204022	p.His354Tyr	missense variant	-	NC_000001.11:g.11794835G>A	gnomAD
rs786204022	p.His354Tyr	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794835G>A	UniProt,dbSNP
VAR_074139	p.His354Tyr	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794835G>A	UniProt
RCV000167608	p.His354Tyr	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794835G>A	ClinVar
rs776606131	p.His354Gln	missense variant	-	NC_000001.11:g.11794833G>T	ExAC,TOPMed,gnomAD
rs768630799	p.Pro355Thr	missense variant	-	NC_000001.11:g.11794832G>T	ExAC,gnomAD
RCV000179909	p.Pro355Leu	missense variant	-	NC_000001.11:g.11794831G>A	ClinVar
rs768630799	p.Pro355Ser	missense variant	-	NC_000001.11:g.11794832G>A	ExAC,gnomAD
rs794727869	p.Pro355Leu	missense variant	-	NC_000001.11:g.11794831G>A	-
rs1165346530	p.Lys356Met	missense variant	-	NC_000001.11:g.11794828T>A	TOPMed
rs977038830	p.Arg357His	missense variant	-	NC_000001.11:g.11794825C>T	TOPMed
rs779993607	p.Arg357Cys	missense variant	-	NC_000001.11:g.11794826G>A	ExAC,TOPMed,gnomAD
rs977038830	p.Arg357His	missense variant	-	NC_000001.11:g.11794825C>T	NCI-TCGA Cosmic
rs768873896	p.Arg358Pro	missense variant	-	NC_000001.11:g.11794822C>G	ExAC,TOPMed,gnomAD
rs377443637	p.Arg358Ter	stop gained	-	NC_000001.11:g.11794823G>A	ESP,ExAC,gnomAD
rs377443637	p.Arg358Ter	stop gained	-	NC_000001.11:g.11794823G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000538018	p.Arg358Ter	nonsense	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794823G>A	ClinVar
rs768873896	p.Arg358Gln	missense variant	-	NC_000001.11:g.11794822C>T	ExAC,TOPMed,gnomAD
rs757627437	p.Glu360Lys	missense variant	-	NC_000001.11:g.11794817C>T	ExAC,TOPMed,gnomAD
rs752303359	p.Asp361Tyr	missense variant	-	NC_000001.11:g.11794814C>A	ExAC,TOPMed,gnomAD
rs752303359	p.Asp361His	missense variant	-	NC_000001.11:g.11794814C>G	ExAC,TOPMed,gnomAD
rs786204023	p.Arg363His	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794807C>T	UniProt,dbSNP
VAR_074140	p.Arg363His	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794807C>T	UniProt
rs786204023	p.Arg363His	missense variant	-	NC_000001.11:g.11794807C>T	gnomAD
rs778682219	p.Arg363Cys	missense variant	-	NC_000001.11:g.11794808G>A	ExAC,gnomAD
RCV000167609	p.Arg363His	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794807C>T	ClinVar
rs786204023	p.Arg363His	missense variant	-	NC_000001.11:g.11794807C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM6120383	p.Phe366Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794797G>C	NCI-TCGA Cosmic
COSM271399	p.Ala368Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794793C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser369Cys	missense variant	-	NC_000001.11:g.11794789G>C	NCI-TCGA
rs786204024	p.Lys372Glu	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794781T>C	UniProt,dbSNP
VAR_074141	p.Lys372Glu	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794781T>C	UniProt
rs786204024	p.Lys372Glu	missense variant	-	NC_000001.11:g.11794781T>C	-
RCV000167610	p.Lys372Glu	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794781T>C	ClinVar
rs753424131	p.Ser373Thr	missense variant	-	NC_000001.11:g.11794777C>G	ExAC,gnomAD
rs1343417985	p.Tyr374Ter	stop gained	-	NC_000001.11:g.11794773G>C	gnomAD
rs765787903	p.Tyr376Cys	missense variant	-	NC_000001.11:g.11794768T>C	ExAC,gnomAD
rs750323424	p.Arg377His	missense variant	-	NC_000001.11:g.11794765C>T	ExAC,TOPMed,gnomAD
rs121434296	p.Arg377Cys	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794766G>A	UniProt,dbSNP
VAR_009534	p.Arg377Cys	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794766G>A	UniProt
rs121434296	p.Arg377Cys	missense variant	-	NC_000001.11:g.11794766G>A	ESP,ExAC,TOPMed,gnomAD
rs750323424	p.Arg377His	missense variant	-	NC_000001.11:g.11794765C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000756357	p.Arg377Cys	missense variant	-	NC_000001.11:g.11794766G>A	ClinVar
rs1452582304	p.Gln379Glu	missense variant	-	NC_000001.11:g.11794760G>C	gnomAD
COSM3965733	p.Gln379Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794760G>T	NCI-TCGA Cosmic
rs1406297300	p.Trp381Arg	missense variant	-	NC_000001.11:g.11794754A>G	gnomAD
rs1430872491	p.Gly387Asp	missense variant	-	NC_000001.11:g.11794735C>T	TOPMed,gnomAD
rs1430872491	p.Gly387Asp	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794735C>T	UniProt,dbSNP
VAR_009535	p.Gly387Asp	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794735C>T	UniProt
rs1430872491	p.Gly387Asp	missense variant	-	NC_000001.11:g.11794735C>T	NCI-TCGA Cosmic
rs370007225	p.Gly387Ser	missense variant	-	NC_000001.11:g.11794736C>T	ESP,ExAC,gnomAD
RCV000596599	p.Arg388Cys	missense variant	-	NC_000001.11:g.11794733G>A	ClinVar
rs769953411	p.Arg388His	missense variant	-	NC_000001.11:g.11794732C>T	NCI-TCGA,NCI-TCGA Cosmic
rs200138092	p.Arg388Cys	missense variant	-	NC_000001.11:g.11794733G>A	ESP,ExAC,TOPMed,gnomAD
RCV000795662	p.Arg388Cys	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794733G>A	ClinVar
rs769953411	p.Arg388His	missense variant	-	NC_000001.11:g.11794732C>T	ExAC,gnomAD
RCV000661921	p.Arg388His	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794732C>T	ClinVar
rs759745583	p.Gly390Val	missense variant	-	NC_000001.11:g.11794536C>A	ExAC,gnomAD
rs776842392	p.Ser392Phe	missense variant	-	NC_000001.11:g.11794530G>A	ExAC,TOPMed,gnomAD
COSM3472042	p.Ser393Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794527G>A	NCI-TCGA Cosmic
rs1298093435	p.Pro395Ser	missense variant	-	NC_000001.11:g.11794522G>A	gnomAD
NCI-TCGA novel	p.Phe397Ser	missense variant	-	NC_000001.11:g.11794515A>G	NCI-TCGA
NCI-TCGA novel	p.Phe397Leu	missense variant	-	NC_000001.11:g.11794516A>G	NCI-TCGA
rs1367495674	p.Glu399Asp	missense variant	-	NC_000001.11:g.11794508C>A	TOPMed,gnomAD
rs1161806284	p.Asp402Asn	missense variant	-	NC_000001.11:g.11794501C>T	gnomAD
rs747447307	p.Asp402Glu	missense variant	-	NC_000001.11:g.11794499G>T	ExAC,TOPMed,gnomAD
rs1402179954	p.Tyr404Ter	stop gained	-	NC_000001.11:g.11794493G>T	TOPMed
rs773652460	p.Leu405Phe	missense variant	-	NC_000001.11:g.11794492G>A	ExAC,TOPMed,gnomAD
rs779627394	p.Ser412Cys	missense variant	-	NC_000001.11:g.11794470G>C	ExAC
rs779627394	p.Ser412Tyr	missense variant	-	NC_000001.11:g.11794470G>T	ExAC
COSM1333134	p.Ser412Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794471A>G	NCI-TCGA Cosmic
rs1248218813	p.Pro413His	missense variant	-	NC_000001.11:g.11794467G>T	gnomAD
COSM4938683	p.Pro413Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794467G>A	NCI-TCGA Cosmic
rs1204340996	p.Glu416Gly	missense variant	-	NC_000001.11:g.11794458T>C	gnomAD
rs1490503885	p.Met420Ile	missense variant	-	NC_000001.11:g.11794445C>T	gnomAD
rs200137991	p.Trp421Leu	missense variant	-	NC_000001.11:g.11794443C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200137991	p.Trp421Ser	missense variant	-	NC_000001.11:g.11794443C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000167612	p.Trp421Ser	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794443C>G	ClinVar
rs200688214	p.Trp421Cys	missense variant	-	NC_000001.11:g.11794442C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs45571736	p.Gly422Arg	missense variant	-	NC_000001.11:g.11794441C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs45571736	p.Gly422Arg	missense variant	-	NC_000001.11:g.11794441C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757268352	p.Glu423Lys	missense variant	-	NC_000001.11:g.11794438C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu423GlyPheSerTerUnk	frameshift	-	NC_000001.11:g.11794437_11794438insC	NCI-TCGA
RCV000721980	p.Glu423Ter	frameshift	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794443dup	ClinVar
rs1476689323	p.Glu424Gln	missense variant	-	NC_000001.11:g.11794435C>G	TOPMed
rs369897291	p.Leu425Val	missense variant	-	NC_000001.11:g.11794432G>C	ESP,ExAC,gnomAD
rs763953323	p.Thr426Ile	missense variant	-	NC_000001.11:g.11794428G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu428Gln	missense variant	-	NC_000001.11:g.11794423C>G	NCI-TCGA
rs1801131	p.Glu429Gly	missense variant	-	NC_000001.11:g.11794419T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1801131	p.Glu429Ala	missense variant	-	NC_000001.11:g.11794419T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1801131	p.Glu429Val	missense variant	-	NC_000001.11:g.11794419T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000144922	p.Glu429Ala	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000001.11:g.11794419T>G	ClinVar
rs759796920	p.Val434Leu	missense variant	-	NC_000001.11:g.11794405C>G	ExAC,gnomAD
rs754015864	p.Phe435Ser	missense variant	-	NC_000001.11:g.11794401A>G	ExAC,gnomAD
rs1220885178	p.Val436Ile	missense variant	-	NC_000001.11:g.11794399C>T	TOPMed
rs1181242383	p.Leu437His	missense variant	-	NC_000001.11:g.11794395A>T	gnomAD
rs545086633	p.Leu439Pro	missense variant	-	NC_000001.11:g.11794389A>G	1000Genomes,TOPMed
rs754554624	p.Ser440Leu	missense variant	-	NC_000001.11:g.11794386G>A	ExAC,TOPMed,gnomAD
rs754554624	p.Ser440Trp	missense variant	-	NC_000001.11:g.11794386G>C	ExAC,TOPMed,gnomAD
rs1197193333	p.Asn444Thr	missense variant	-	NC_000001.11:g.11794374T>G	gnomAD
rs1041048235	p.Asn444Lys	missense variant	-	NC_000001.11:g.11794373G>C	TOPMed
rs138469955	p.Arg445Trp	missense variant	-	NC_000001.11:g.11794372G>A	ESP,ExAC,TOPMed,gnomAD
rs774694621	p.Arg445Gln	missense variant	-	NC_000001.11:g.11794371C>T	ExAC,TOPMed,gnomAD
rs1206497521	p.Asn446Ser	missense variant	-	NC_000001.11:g.11794368T>C	TOPMed,gnomAD
rs1463970820	p.Lys449Arg	missense variant	-	NC_000001.11:g.11794359T>C	TOPMed
NCI-TCGA novel	p.Val450Ter	frameshift	-	NC_000001.11:g.11794358T>-	NCI-TCGA
rs759193051	p.Thr451Ile	missense variant	-	NC_000001.11:g.11794085G>A	ExAC
rs1219122595	p.Pro454His	missense variant	-	NC_000001.11:g.11794076G>T	gnomAD
NCI-TCGA novel	p.Pro454Thr	missense variant	-	NC_000001.11:g.11794077G>T	NCI-TCGA
NCI-TCGA novel	p.Trp455Cys	missense variant	-	NC_000001.11:g.11794072C>A	NCI-TCGA
RCV000523084	p.Trp455Ter	nonsense	-	NC_000001.11:g.11794072C>T	ClinVar
rs1553185497	p.Trp455Ter	stop gained	-	NC_000001.11:g.11794072C>T	-
rs1310876112	p.Asn456His	missense variant	-	NC_000001.11:g.11794071T>G	TOPMed,gnomAD
rs371829068	p.Asp457His	missense variant	-	NC_000001.11:g.11794068C>G	ESP,ExAC,gnomAD
COSM4830990	p.Pro459Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794061G>A	NCI-TCGA Cosmic
rs777304472	p.Ala461Val	missense variant	-	NC_000001.11:g.11794055G>A	ExAC,TOPMed,gnomAD
rs1413722522	p.Ala462Ser	missense variant	-	NC_000001.11:g.11794053C>A	gnomAD
rs1420094265	p.Ala462Val	missense variant	-	NC_000001.11:g.11794052G>A	gnomAD
rs778887074	p.Ser465Arg	missense variant	-	NC_000001.11:g.11794044T>G	ExAC,gnomAD
rs142617551	p.Glu470Val	missense variant	-	NC_000001.11:g.11794028T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs886043349	p.Glu470Leu	missense variant	-	NC_000001.11:g.11794028_11794029delinsAG	-
rs139645527	p.Glu470Ter	stop gained	-	NC_000001.11:g.11794029C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000811402	p.Glu470Leu	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794028_11794029delinsAG	ClinVar
rs139645527	p.Glu470Gln	missense variant	-	NC_000001.11:g.11794029C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000319501	p.Glu470Val	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11794028T>A	ClinVar
RCV000385555	p.Glu470Leu	missense variant	-	NC_000001.11:g.11794028_11794029delinsAG	ClinVar
VAR_054158	p.Glu470Ala	Missense	-	-	UniProt
rs750510348	p.Arg473Trp	missense variant	-	NC_000001.11:g.11794020G>A	ExAC,TOPMed,gnomAD
rs144594875	p.Arg473Gln	missense variant	-	NC_000001.11:g.11794019C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751995483	p.Arg476His	missense variant	-	NC_000001.11:g.11794010C>T	ExAC,gnomAD
rs757784497	p.Arg476Cys	missense variant	-	NC_000001.11:g.11794011G>A	ExAC,TOPMed,gnomAD
rs764455987	p.Gly478Val	missense variant	-	NC_000001.11:g.11794004C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile479Met	missense variant	-	NC_000001.11:g.11794000G>C	NCI-TCGA
NCI-TCGA novel	p.Ile479Thr	missense variant	-	NC_000001.11:g.11794001A>G	NCI-TCGA
rs1248420915	p.Ile482Val	missense variant	-	NC_000001.11:g.11793993T>C	gnomAD
NCI-TCGA novel	p.Gln485Arg	missense variant	-	NC_000001.11:g.11793983T>C	NCI-TCGA
rs545002537	p.Gln485His	missense variant	-	NC_000001.11:g.11793982C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1446936545	p.Asn487Ser	missense variant	-	NC_000001.11:g.11793977T>C	gnomAD
rs1235405305	p.Ile488Val	missense variant	-	NC_000001.11:g.11793975T>C	TOPMed
rs775917722	p.Asn489Ser	missense variant	-	NC_000001.11:g.11793971T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly490Glu	missense variant	-	NC_000001.11:g.11793968C>T	NCI-TCGA
rs760349899	p.Gly490Arg	missense variant	-	NC_000001.11:g.11793969C>T	ExAC,TOPMed,gnomAD
rs1369366243	p.Lys491Gln	missense variant	-	NC_000001.11:g.11793966T>G	gnomAD
rs772615731	p.Pro492Leu	missense variant	-	NC_000001.11:g.11793962G>A	ExAC,gnomAD
rs748104181	p.Ser493Thr	missense variant	-	NC_000001.11:g.11793960A>T	ExAC,TOPMed,gnomAD
rs749165790	p.Asp495Asn	missense variant	-	NC_000001.11:g.11793954C>T	ExAC,TOPMed,gnomAD
rs1397197928	p.Ile497Val	missense variant	-	NC_000001.11:g.11793948T>C	TOPMed
rs1397197928	p.Ile497Phe	missense variant	-	NC_000001.11:g.11793948T>A	TOPMed
rs150870770	p.Val498Met	missense variant	-	NC_000001.11:g.11793945C>T	ESP,ExAC,TOPMed,gnomAD
rs1357376759	p.Trp500Gly	missense variant	-	NC_000001.11:g.11793939A>C	gnomAD
rs116620395	p.Trp500Cys	missense variant	-	NC_000001.11:g.11793937C>G	1000Genomes,ExAC,gnomAD
rs1373785177	p.Gly504Arg	missense variant	-	NC_000001.11:g.11793927C>T	gnomAD
rs764650203	p.Tyr506Cys	missense variant	-	NC_000001.11:g.11793920T>C	ExAC,gnomAD
rs786204026	p.Tyr506Asp	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11793921A>C	UniProt,dbSNP
VAR_074145	p.Tyr506Asp	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11793921A>C	UniProt
rs786204026	p.Tyr506Asp	missense variant	-	NC_000001.11:g.11793921A>C	-
RCV000167614	p.Tyr506Asp	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11793921A>C	ClinVar
NCI-TCGA novel	p.Gln509Ter	stop gained	-	NC_000001.11:g.11793912G>A	NCI-TCGA
rs1425929014	p.Lys510Glu	missense variant	-	NC_000001.11:g.11793909T>C	gnomAD
rs753049408	p.Lys510Thr	missense variant	-	NC_000001.11:g.11793908T>G	ExAC,gnomAD
rs1464875135	p.Tyr512Cys	missense variant	-	NC_000001.11:g.11792375T>C	TOPMed,gnomAD
rs1553185069	p.Leu513Ter	stop gained	-	NC_000001.11:g.11792372A>C	-
rs201888750	p.Leu513Ile	missense variant	-	NC_000001.11:g.11792373A>T	1000Genomes,ExAC,gnomAD
RCV000657793	p.Leu513Ter	nonsense	-	NC_000001.11:g.11792372A>C	ClinVar
rs45449298	p.Arg519Leu	missense variant	-	NC_000001.11:g.11792354C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs45496998	p.Arg519Cys	missense variant	-	NC_000001.11:g.11792355G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000763727	p.Arg519Leu	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792354C>A	ClinVar
RCV000173820	p.Arg519Leu	missense variant	-	NC_000001.11:g.11792354C>A	ClinVar
rs45449298	p.Arg519His	missense variant	-	NC_000001.11:g.11792354C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756994487	p.Glu520Gln	missense variant	-	NC_000001.11:g.11792352C>G	ExAC,TOPMed,gnomAD
rs756994487	p.Glu520Lys	missense variant	-	NC_000001.11:g.11792352C>T	ExAC,TOPMed,gnomAD
rs1205287921	p.Thr521Ala	missense variant	-	NC_000001.11:g.11792349T>C	gnomAD
rs1482156613	p.Thr521Ile	missense variant	-	NC_000001.11:g.11792348G>A	gnomAD
rs1255283120	p.Ala522Val	missense variant	-	NC_000001.11:g.11792345G>A	gnomAD
rs774934088	p.Ala524Gly	missense variant	-	NC_000001.11:g.11792339G>C	ExAC,TOPMed,gnomAD
rs774934088	p.Ala524Glu	missense variant	-	NC_000001.11:g.11792339G>T	ExAC,TOPMed,gnomAD
rs762581197	p.Gln527Arg	missense variant	-	NC_000001.11:g.11792330T>C	ExAC,gnomAD
rs1383010048	p.Gln527Ter	stop gained	-	NC_000001.11:g.11792331G>A	gnomAD
rs752143951	p.Val528Ala	missense variant	-	NC_000001.11:g.11792327A>G	ExAC,gnomAD
rs759367609	p.Lys531Ter	stop gained	-	NC_000001.11:g.11792319T>A	ExAC,gnomAD
RCV000416933	p.Lys531Ter	frameshift	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792317del	ClinVar
NCI-TCGA novel	p.Tyr532Ter	stop gained	-	NC_000001.11:g.11792314G>C	NCI-TCGA
rs770670302	p.Glu533Lys	missense variant	-	NC_000001.11:g.11792313C>T	ExAC,TOPMed,gnomAD
rs773360881	p.Arg535Gln	missense variant	-	NC_000001.11:g.11792306C>T	ExAC,gnomAD
rs760886915	p.Arg535Trp	missense variant	-	NC_000001.11:g.11792307G>A	ExAC,gnomAD
rs786204028	p.Val536Phe	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11792304C>A	UniProt,dbSNP
VAR_074146	p.Val536Phe	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11792304C>A	UniProt
rs786204028	p.Val536Ile	missense variant	-	NC_000001.11:g.11792304C>T	TOPMed
rs786204028	p.Val536Phe	missense variant	-	NC_000001.11:g.11792304C>A	TOPMed
RCV000190390	p.Val536Ile	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792304C>T	ClinVar
RCV000167616	p.Val536Phe	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792304C>A	ClinVar
RCV000190391	p.Asn537Lys	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792299A>T	ClinVar
rs796064511	p.Asn537Lys	missense variant	-	NC_000001.11:g.11792299A>T	-
rs995289143	p.Tyr538His	missense variant	-	NC_000001.11:g.11792298A>G	TOPMed,gnomAD
rs995289143	p.Tyr538Asn	missense variant	-	NC_000001.11:g.11792298A>T	TOPMed,gnomAD
rs779726227	p.Val541Ala	missense variant	-	NC_000001.11:g.11792288A>G	TOPMed,gnomAD
rs145641996	p.Asn542Ser	missense variant	-	NC_000001.11:g.11792285T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145641996	p.Asn542Thr	missense variant	-	NC_000001.11:g.11792285T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769258023	p.Lys544Asn	missense variant	-	NC_000001.11:g.11792278C>G	ExAC,gnomAD
rs1203757587	p.Lys544Arg	missense variant	-	NC_000001.11:g.11792279T>C	gnomAD
rs1051649397	p.Glu546Gln	missense variant	-	NC_000001.11:g.11791323C>G	TOPMed
NCI-TCGA novel	p.Thr549Ser	missense variant	-	NC_000001.11:g.11791314T>A	NCI-TCGA
rs781388555	p.Asn550Ser	missense variant	-	NC_000001.11:g.11791310T>C	ExAC,gnomAD
rs1405669115	p.Asn550Tyr	missense variant	-	NC_000001.11:g.11791311T>A	TOPMed
RCV000280809	p.Asn550Ser	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11791310T>C	ClinVar
rs140565495	p.Ala551Thr	missense variant	-	NC_000001.11:g.11791308C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747712448	p.Pro556Leu	missense variant	-	NC_000001.11:g.11791292G>A	ExAC,TOPMed,gnomAD
RCV000558638	p.Pro556Leu	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11791292G>A	ClinVar
RCV000709684	p.Trp561Ter	nonsense	Neural tube defect (NTD)	NC_000001.11:g.11791276C>T	ClinVar
rs1161759917	p.Gly562Asp	missense variant	-	NC_000001.11:g.11791274C>T	TOPMed
RCV000507518	p.Gly562Asp	missense variant	-	NC_000001.11:g.11791274C>T	ClinVar
rs140277700	p.Arg567Ter	stop gained	-	NC_000001.11:g.11791260G>A	ESP,ExAC,TOPMed,gnomAD
rs750272108	p.Arg567Gln	missense variant	-	NC_000001.11:g.11791259C>T	ExAC,gnomAD
rs1434449406	p.Gln571Ter	stop gained	-	NC_000001.11:g.11791248G>A	TOPMed
rs144508139	p.Pro572Leu	missense variant	-	NC_000001.11:g.11791244G>A	ESP,ExAC,TOPMed,gnomAD
rs144508139	p.Pro572Leu	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791244G>A	UniProt,dbSNP
VAR_009536	p.Pro572Leu	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791244G>A	UniProt
rs202153689	p.Val574Ile	missense variant	-	NC_000001.11:g.11791239C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAR_074147	p.Val574Gly	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
rs786204031	p.Val575Ala	missense variant	-	NC_000001.11:g.11791235A>G	gnomAD
RCV000167619	p.Val575Gly	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11791235A>C	ClinVar
rs786204031	p.Val575Gly	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791235A>C	UniProt,dbSNP
VAR_074148	p.Val575Gly	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791235A>C	UniProt
rs786204031	p.Val575Gly	missense variant	-	NC_000001.11:g.11791235A>C	gnomAD
NCI-TCGA novel	p.Pro577Leu	missense variant	-	NC_000001.11:g.11791229G>A	NCI-TCGA
rs763185082	p.Val578Ile	missense variant	-	NC_000001.11:g.11791227C>T	ExAC,TOPMed,gnomAD
rs1433249020	p.Val578Ala	missense variant	-	NC_000001.11:g.11791226A>G	gnomAD
rs770471347	p.Phe580Leu	missense variant	-	NC_000001.11:g.11791221A>G	ExAC,gnomAD
RCV000149178	p.Phe580Ter	frameshift	Malignant tumor of prostate	NC_000001.11:g.11791221del	ClinVar
rs746327818	p.Met581Val	missense variant	-	NC_000001.11:g.11791218T>C	ExAC,TOPMed,gnomAD
rs45590836	p.Met581Ile	missense variant	-	NC_000001.11:g.11791216C>T	ESP,ExAC,TOPMed,gnomAD
rs777084035	p.Met581Thr	missense variant	-	NC_000001.11:g.11791217A>G	ExAC,gnomAD
RCV000003705	p.Met581Ile	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11791216C>T	ClinVar
rs1314085200	p.Trp583Ter	stop gained	-	NC_000001.11:g.11791211C>T	TOPMed
rs149278646	p.Asp585Asn	missense variant	-	NC_000001.11:g.11790898C>T	ESP,ExAC,TOPMed,gnomAD
rs983672500	p.Glu586Lys	missense variant	-	NC_000001.11:g.11790895C>T	TOPMed,gnomAD
rs761226286	p.Ala587Asp	missense variant	-	NC_000001.11:g.11790891G>T	ExAC,TOPMed,gnomAD
rs761226286	p.Ala587Val	missense variant	-	NC_000001.11:g.11790891G>A	ExAC,TOPMed,gnomAD
rs761226286	p.Ala587Gly	missense variant	-	NC_000001.11:g.11790891G>C	ExAC,TOPMed,gnomAD
rs1030439905	p.Phe588Ser	missense variant	-	NC_000001.11:g.11790888A>G	TOPMed
rs762599135	p.Ile592Thr	missense variant	-	NC_000001.11:g.11790876A>G	ExAC,TOPMed,gnomAD
rs775066323	p.Arg594Gly	missense variant	-	NC_000001.11:g.11790871G>C	ExAC,TOPMed,gnomAD
rs2274976	p.Arg594Gln	missense variant	-	NC_000001.11:g.11790870C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775066323	p.Arg594Trp	missense variant	-	NC_000001.11:g.11790871G>A	ExAC,TOPMed,gnomAD
RCV000433699	p.Arg594Gln	missense variant	-	NC_000001.11:g.11790870C>T	ClinVar
rs745437278	p.Trp595Ter	stop gained	-	NC_000001.11:g.11790866C>T	ExAC,gnomAD
rs786204034	p.Leu598Pro	missense variant	-	NC_000001.11:g.11790858A>G	-
rs786204034	p.Leu598Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790858A>G	UniProt,dbSNP
VAR_074149	p.Leu598Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790858A>G	UniProt
RCV000167622	p.Leu598Pro	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790858A>G	ClinVar
rs770793658	p.Tyr599Ter	stop gained	-	NC_000001.11:g.11790854A>C	ExAC,gnomAD
rs786204035	p.TyrGlu599TerTer	stop gained	-	NC_000001.11:g.11790853_11790854delinsAC	-
rs201095365	p.Glu600Ter	stop gained	-	NC_000001.11:g.11790853C>A	ESP,ExAC,TOPMed,gnomAD
rs904238175	p.Glu600Asp	missense variant	-	NC_000001.11:g.11790851C>A	TOPMed,gnomAD
rs201095365	p.Glu600Lys	missense variant	-	NC_000001.11:g.11790853C>T	ESP,ExAC,TOPMed,gnomAD
COSM4021156	p.Glu600Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11790852T>G	NCI-TCGA Cosmic
rs903649610	p.Glu602Ala	missense variant	-	NC_000001.11:g.11790846T>G	TOPMed,gnomAD
rs1000738509	p.Glu602Ter	stop gained	-	NC_000001.11:g.11790847C>A	TOPMed,gnomAD
rs758206023	p.Ser603Cys	missense variant	-	NC_000001.11:g.11790843G>C	ExAC,TOPMed,gnomAD
rs758206023	p.Ser603Phe	missense variant	-	NC_000001.11:g.11790843G>A	ExAC,TOPMed,gnomAD
RCV000167624	p.Ser603Cys	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790843G>C	ClinVar
rs747938592	p.Pro604Leu	missense variant	-	NC_000001.11:g.11790840G>A	ExAC,gnomAD
rs200379144	p.Ser605Pro	missense variant	-	NC_000001.11:g.11790838A>G	ExAC,TOPMed,gnomAD
rs373747884	p.Arg606Cys	missense variant	-	NC_000001.11:g.11790835G>A	ESP,ExAC,TOPMed,gnomAD
rs753917964	p.Arg606His	missense variant	-	NC_000001.11:g.11790834C>T	ExAC,TOPMed,gnomAD
rs1466575883	p.Gln610Ter	stop gained	-	NC_000001.11:g.11790823G>A	TOPMed
rs1466575883	p.Gln610Lys	missense variant	-	NC_000001.11:g.11790823G>T	TOPMed
rs1414726290	p.Gln610Arg	missense variant	-	NC_000001.11:g.11790822T>C	gnomAD
rs756615138	p.Tyr611Cys	missense variant	-	NC_000001.11:g.11790819T>C	ExAC,TOPMed,gnomAD
rs756615138	p.Tyr611Phe	missense variant	-	NC_000001.11:g.11790819T>A	ExAC,TOPMed,gnomAD
rs199730437	p.His613Gln	missense variant	-	NC_000001.11:g.11790812G>C	ExAC,TOPMed,gnomAD
rs879406669	p.Asp614His	missense variant	-	NC_000001.11:g.11790811C>G	gnomAD
rs879406669	p.Asp614Asn	missense variant	-	NC_000001.11:g.11790811C>T	gnomAD
rs1487547746	p.Asn615Asp	missense variant	-	NC_000001.11:g.11790808T>C	TOPMed,gnomAD
rs776034726	p.Asn620Ser	missense variant	-	NC_000001.11:g.11790792T>C	ExAC,gnomAD
rs770407631	p.Leu621Met	missense variant	-	NC_000001.11:g.11790790G>T	ExAC,TOPMed,gnomAD
rs770407631	p.Leu621Val	missense variant	-	NC_000001.11:g.11790790G>C	ExAC,TOPMed,gnomAD
RCV000378011	p.Leu621Val	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11790790G>C	ClinVar
rs773336859	p.Asn624Asp	missense variant	-	NC_000001.11:g.11790781T>C	ExAC,gnomAD
rs772127190	p.Asn624Ser	missense variant	-	NC_000001.11:g.11790780T>C	ExAC,gnomAD
rs942252307	p.Asp625Asn	missense variant	-	NC_000001.11:g.11790778C>T	TOPMed
rs199707466	p.Phe626Leu	missense variant	-	NC_000001.11:g.11790773G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747993832	p.Phe626Leu	missense variant	-	NC_000001.11:g.11790775A>G	ExAC,gnomAD
rs786204037	p.Leu628Gln	missense variant	-	NC_000001.11:g.11790768A>T	TOPMed
rs786204037	p.Leu628Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790768A>G	UniProt,dbSNP
VAR_074150	p.Leu628Pro	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790768A>G	UniProt
rs786204037	p.Leu628Pro	missense variant	-	NC_000001.11:g.11790768A>G	TOPMed
RCV000167625	p.Leu628Pro	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790768A>G	ClinVar
rs755181257	p.Leu628Val	missense variant	-	NC_000001.11:g.11790769G>C	ExAC,gnomAD
rs370272345	p.Asp629Gly	missense variant	-	NC_000001.11:g.11790765T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756165045	p.Cys631Tyr	missense variant	-	NC_000001.11:g.11790759C>T	ExAC,gnomAD
rs190087897	p.Val635Leu	missense variant	-	NC_000001.11:g.11790748C>A	1000Genomes,ExAC,gnomAD
rs1057334427	p.Glu637Lys	missense variant	-	NC_000001.11:g.11790742C>T	TOPMed
rs768081446	p.Asp638Val	missense variant	-	NC_000001.11:g.11790738T>A	ExAC,TOPMed,gnomAD
rs1187304768	p.Thr639Ile	missense variant	-	NC_000001.11:g.11790735G>A	TOPMed,gnomAD
COSM2150324	p.Leu643ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.11790723A>-	NCI-TCGA Cosmic
rs200947520	p.Asn644Lys	missense variant	-	NC_000001.11:g.11790719G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000642249	p.Asn644Lys	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790719G>T	ClinVar
rs1206548887	p.Arg645Ser	missense variant	-	NC_000001.11:g.11790716C>A	gnomAD
rs1445911397	p.Thr647Ile	missense variant	-	NC_000001.11:g.11790711G>A	gnomAD
rs776289670	p.Gln648His	missense variant	-	NC_000001.11:g.11790707C>G	ExAC,TOPMed,gnomAD
rs765930342	p.Asn649Asp	missense variant	-	NC_000001.11:g.11790706T>C	ExAC,gnomAD
RCV000321003	p.Ala650Val	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11790702G>A	ClinVar
rs145544233	p.Ala650Val	missense variant	-	NC_000001.11:g.11790702G>A	ESP,ExAC,TOPMed,gnomAD
rs145544233	p.Ala650Gly	missense variant	-	NC_000001.11:g.11790702G>C	ESP,ExAC,TOPMed,gnomAD
rs976155115	p.Ala650Ser	missense variant	-	NC_000001.11:g.11790703C>A	TOPMed
rs1409161468	p.Arg651Gly	missense variant	-	NC_000001.11:g.11790700T>C	TOPMed,gnomAD
rs1228526408	p.Arg651Lys	missense variant	-	NC_000001.11:g.11790699C>T	TOPMed,gnomAD
rs1366865284	p.Glu652Lys	missense variant	-	NC_000001.11:g.11790697C>T	gnomAD
NCI-TCGA novel	p.Glu652Ter	stop gained	-	NC_000001.11:g.11790697C>A	NCI-TCGA
rs35737219	p.Thr653Met	missense variant	-	NC_000001.11:g.11790693G>A	UniProt,dbSNP
VAR_018860	p.Thr653Met	missense variant	-	NC_000001.11:g.11790693G>A	UniProt
rs35737219	p.Thr653Met	missense variant	-	NC_000001.11:g.11790693G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000261696	p.Thr653Met	missense variant	-	NC_000001.11:g.11790693G>A	ClinVar
RCV000534228	p.Thr653Met	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790693G>A	ClinVar
RCV000755305	p.Thr653Met	missense variant	-	NC_000001.11:g.11790693G>A	ClinVar
rs761795803	p.Ala655Val	missense variant	-	NC_000001.11:g.11790687G>A	ExAC,gnomAD
rs907946954	p.Ala655Thr	missense variant	-	NC_000001.11:g.11790688C>T	gnomAD
NCI-TCGA novel	p.Pro656Thr	missense variant	-	NC_000001.11:g.11790685G>T	NCI-TCGA
NCI-TCGA novel	p.Pro656Ser	missense variant	-	NC_000001.11:g.11790685G>A	NCI-TCGA
rs768434408	p.Ter657Arg	stop lost	-	NC_000001.11:g.11790682A>G	ExAC,TOPMed,gnomAD
rs749490263	p.Ter657Ser	stop lost	-	NC_000001.11:g.11790681C>G	ExAC,gnomAD
RCV000167626	p.Ter657Arg	stop lost	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790682A>G	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE;LHGDN
C0000786	Spontaneous abortion	phenotype	LHGDN
C0000809	Abortion, Habitual	disease	LHGDN
C0000832	Abruptio Placentae	phenotype	LHGDN
C0001206	Acromegaly	disease	BEFREE
C0001339	Acute pancreatitis	disease	BEFREE
C0001403	Addison Disease	disease	HPO
C0001418	Adenocarcinoma	group	BEFREE;LHGDN
C0001430	Adenoma	group	BEFREE;LHGDN
C0001723	Affective Disorders, Psychotic	group	BEFREE;PSYGENET
C0001787	Osteoporosis, Age-Related	disease	BEFREE
C0001857	AIDS related complex	disease	BEFREE
C0001956	Alcohol Use Disorder	disease	BEFREE
C0001969	Alcoholic Intoxication	disease	BEFREE;PSYGENET
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE;PSYGENET
C0002170	Alopecia	disease	BEFREE;CTD_human
C0002395	Alzheimer's Disease	disease	BEFREE;CTD_human;LHGDN
C0002622	Amnesia	disease	BEFREE
C0002871	Anemia	disease	BEFREE;CTD_human
C0002878	Anemia, Hemolytic	disease	BEFREE
C0002888	Anemia, Megaloblastic	disease	BEFREE
C0002895	Anemia, Sickle Cell	disease	BEFREE
C0002902	Anencephaly	disease	BEFREE;HPO;LHGDN;ORPHANET
C0002949	Aneurysm, Dissecting	disease	BEFREE
C0003467	Anxiety	disease	BEFREE
C0003469	Anxiety Disorders	group	BEFREE
C0003838	Arterial Occlusive Diseases	group	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003855	Arteriovenous fistula	phenotype	BEFREE
C0003864	Arthritis	disease	LHGDN
C0003872	Arthritis, Psoriatic	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE;CTD_human;LHGDN
C0004096	Asthma	disease	BEFREE;LHGDN
C0004153	Atherosclerosis	disease	BEFREE;LHGDN
C0004238	Atrial Fibrillation	disease	BEFREE;GWASCAT;GWASDB
C0004352	Autistic Disorder	group	BEFREE;CTD_human
C0004364	Autoimmune Diseases	group	BEFREE
C0004509	Azoospermia	disease	BEFREE
C0004936	Mental disorders	group	BEFREE
C0004941	Behavioral Symptoms	group	HPO
C0004943	Behcet Syndrome	disease	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;CTD_human;LHGDN;PSYGENET
C0005587	Depression, Bipolar	disease	CTD_human
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE;CTD_human
C0005695	Bladder Neoplasm	group	BEFREE;CTD_human;LHGDN
C0005779	Blood Coagulation Disorders	group	BEFREE
C0005823	Blood Pressure	phenotype	GWASDB
C0005956	Bone Marrow Diseases	group	BEFREE
C0006012	Borderline Personality Disorder	disease	BEFREE
C0006118	Brain Neoplasms	group	BEFREE;LHGDN
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE;CTD_human
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007113	Rectal Carcinoma	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;LHGDN
C0007222	Cardiovascular Diseases	group	BEFREE;CTD_human;LHGDN
C0007273	Carotid Artery Diseases	group	LHGDN
C0007282	Carotid Stenosis	disease	BEFREE;LHGDN
C0007570	Celiac Disease	disease	BEFREE
C0007766	Intracranial Aneurysm	disease	BEFREE
C0007775	Cerebral Atherosclerosis	disease	BEFREE
C0007785	Cerebral Infarction	disease	BEFREE
C0007786	Brain Ischemia	disease	CTD_human;LHGDN
C0007787	Transient Ischemic Attack	disease	BEFREE
C0007789	Cerebral Palsy	disease	BEFREE
C0007820	Cerebrovascular Disorders	group	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0007867	Cervix Diseases	group	BEFREE
C0007868	Cervical dysplasia	disease	BEFREE
C0007873	Uterine Cervical Neoplasm	disease	CTD_human
C0008073	Developmental Disabilities	group	BEFREE
C0008479	Chondrosarcoma	disease	LHGDN
C0008626	Congenital chromosomal disease	group	BEFREE
C0008924	Cleft upper lip	disease	BEFREE;CTD_human;LHGDN
C0008925	Cleft Palate	disease	BEFREE
C0009081	Congenital clubfoot	disease	BEFREE;CTD_human
C0009088	Cluster Headache	disease	BEFREE
C0009241	Cognition Disorders	group	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE;LHGDN
C0009375	Colonic Neoplasms	group	BEFREE;CTD_human;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE;CTD_human
C0009404	Colorectal Neoplasms	group	BEFREE;CTD_human;LHGDN
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE;CTD_human;GWASDB;LHGDN
C0010346	Crohn Disease	disease	BEFREE;CTD_human
C0011057	Hearing Loss, Sudden	phenotype	CTD_human;LHGDN
C0011265	Presenile dementia	disease	BEFREE;CTD_human
C0011268	Senile dementia	disease	BEFREE
C0011269	Dementia, Vascular	disease	BEFREE
C0011570	Mental Depression	disease	BEFREE;PSYGENET
C0011573	Endogenous depression	disease	CTD_human
C0011581	Depressive disorder	disease	BEFREE;CTD_human;PSYGENET
C0011609	Drug Eruptions	group	CTD_human
C0011615	Dermatitis, Atopic	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE;LHGDN
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE;LHGDN
C0011875	Diabetic Angiopathies	disease	BEFREE;CTD_human
C0011881	Diabetic Nephropathy	disease	BEFREE;LHGDN
C0011884	Diabetic Retinopathy	disease	BEFREE;LHGDN
C0011991	Diarrhea	phenotype	BEFREE
C0011999	Diastematomyelia	disease	CTD_human
C0012691	Dislocations	group	LHGDN
C0013080	Down Syndrome	disease	BEFREE;CTD_human;LHGDN
C0013170	Drug habituation	phenotype	BEFREE
C0013221	Drug toxicity	group	CTD_human
C0013274	Patent ductus arteriosus	disease	BEFREE
C0013404	Dyspnea	phenotype	BEFREE
C0013537	Eclampsia	disease	BEFREE
C0013595	Eczema	disease	BEFREE
C0014068	Encephalomalacia	disease	LHGDN
C0014170	Endometrial Neoplasms	group	CTD_human
C0014544	Epilepsy	disease	BEFREE;HPO;LHGDN
C0014859	Esophageal Neoplasms	group	BEFREE;LHGDN
C0015625	Fanconi Anemia	disease	BEFREE
C0015695	Fatty Liver	disease	BEFREE
C0016034	Breast Fibrocystic Disease	disease	BEFREE
C0016412	Folic Acid Deficiency	disease	BEFREE
C0017178	Gastrointestinal Diseases	group	CTD_human
C0017601	Glaucoma	disease	BEFREE
C0017605	Angle Closure Glaucoma	disease	LHGDN
C0017606	Primary angle-closure glaucoma	disease	BEFREE
C0017612	Glaucoma, Open-Angle	disease	BEFREE;LHGDN
C0017636	Glioblastoma	disease	BEFREE;LHGDN
C0017638	Glioma	disease	BEFREE
C0018133	Graft-vs-Host Disease	disease	BEFREE;CTD_human;LHGDN
C0018681	Headache	phenotype	BEFREE
C0018784	Sensorineural Hearing Loss (disorder)	disease	BEFREE
C0018790	Cardiac Arrest	disease	BEFREE
C0018798	Congenital Heart Defects	group	BEFREE;CTD_human;LHGDN
C0018799	Heart Diseases	group	BEFREE
C0018817	Atrial Septal Defects	group	BEFREE
C0018939	Hematological Disease	group	CTD_human;LHGDN
C0019154	Hepatic Vein Thrombosis	disease	BEFREE
C0019156	Hepatic Veno-Occlusive Disease	disease	BEFREE
C0019158	Hepatitis	disease	BEFREE
C0019159	Hepatitis A	disease	BEFREE
C0019163	Hepatitis B	disease	BEFREE
C0019193	Hepatitis, Toxic	disease	CTD_human
C0019196	Hepatitis C	disease	BEFREE;LHGDN
C0019202	Hepatolenticular Degeneration	disease	BEFREE
C0019829	Hodgkin Disease	disease	BEFREE
C0019880	Homocystinuria	disease	BEFREE;HPO
C0020179	Huntington Disease	disease	BEFREE;LHGDN
C0020443	Hypercholesterolemia	disease	BEFREE
C0020445	Hypercholesterolemia, Familial	disease	BEFREE
C0020456	Hyperglycemia	disease	BEFREE;LHGDN
C0020517	Hypersensitivity	group	CTD_human
C0020538	Hypertensive disease	group	BEFREE;LHGDN
C0020550	Hyperthyroidism	disease	RGD
C0020615	Hypoglycemia	disease	BEFREE
C0020676	Hypothyroidism	disease	RGD
C0021308	Infarction	phenotype	LHGDN
C0021361	Female infertility	phenotype	CTD_human
C0021364	Male infertility	disease	BEFREE;CTD_human;LHGDN
C0021390	Inflammatory Bowel Diseases	group	BEFREE
C0021775	Intermittent Claudication	phenotype	BEFREE
C0022658	Kidney Diseases	group	BEFREE;CTD_human
C0022660	Kidney Failure, Acute	disease	CTD_human
C0022661	Kidney Failure, Chronic	disease	BEFREE;LHGDN
C0023234	Legg-Calve-Perthes Disease	disease	BEFREE
C0023418	leukemia	disease	BEFREE;LHGDN
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE;CTD_human;LHGDN
C0023448	Lymphoid leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE;CTD_human
C0023453	Leukemia, Lymphocytic, Acute, L2	disease	CTD_human
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE;LHGDN
C0023470	Myeloid Leukemia	disease	BEFREE;LHGDN
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE;LHGDN
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE
C0023530	Leukopenia	disease	BEFREE;CTD_human
C0023890	Liver Cirrhosis	disease	BEFREE;LHGDN
C0023891	Liver Cirrhosis, Alcoholic	disease	BEFREE
C0023895	Liver diseases	group	BEFREE;CTD_human
C0023903	Liver neoplasms	group	BEFREE;LHGDN
C0024121	Lung Neoplasms	group	CTD_human;LHGDN
C0024131	Lupus Vulgaris	disease	BEFREE
C0024138	Lupus Erythematosus, Discoid	disease	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0024299	Lymphoma	group	BEFREE;CTD_human;LHGDN
C0024301	Lymphoma, Follicular	disease	BEFREE;CTD_human
C0024302	Reticulosarcoma	disease	CTD_human
C0024304	Lymphoma, Mixed-Cell	disease	CTD_human
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE;CTD_human
C0024306	Lymphoma, Undifferentiated	disease	CTD_human
C0024314	Lymphoproliferative Disorders	group	BEFREE
C0024530	Malaria	disease	BEFREE
C0024620	Primary Malignant Liver Neoplasm	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE;CTD_human
C0024713	Manic Disorder	disease	CTD_human
C0024796	Marfan Syndrome	disease	BEFREE
C0025193	Melancholia	disease	CTD_human
C0025286	Meningioma	disease	BEFREE;LHGDN
C0025312	Meningomyelocele	disease	BEFREE;CTD_human
C0025322	Premature Menopause	phenotype	BEFREE
C0025362	Mental Retardation	disease	BEFREE
C0025517	Metabolic Diseases	group	BEFREE
C0025521	Inborn Errors of Metabolism	group	BEFREE
C0025945	Microangiopathy, Diabetic	disease	BEFREE;CTD_human
C0026654	Moyamoya Disease	disease	GWASCAT
C0026764	Multiple Myeloma	disease	BEFREE;LHGDN
C0026769	Multiple Sclerosis	disease	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE;LHGDN
C0027540	Necrosis	phenotype	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE;CTD_human
C0027765	nervous system disorder	group	BEFREE;CTD_human
C0027794	Neural Tube Defects	group	BEFREE;CTD_human;LHGDN
C0027806	Neurenteric Cyst	disease	CTD_human
C0027947	Neutropenia	disease	BEFREE;CTD_human
C0028754	Obesity	disease	BEFREE
C0028960	Oligospermia	disease	BEFREE
C0029445	Bone necrosis	phenotype	LHGDN
C0029453	Osteopenia	disease	BEFREE
C0029456	Osteoporosis	disease	BEFREE;LHGDN
C0029463	Osteosarcoma	disease	LHGDN
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0030354	Papilloma	disease	BEFREE
C0030554	Paresthesia	phenotype	BEFREE;HPO
C0030567	Parkinson Disease	disease	BEFREE;LHGDN
C0031117	Peripheral Neuropathy	group	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE;LHGDN
C0032463	Polycythemia Vera	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0032584	polyps	phenotype	BEFREE;LHGDN
C0032914	Pre-Eclampsia	phenotype	LHGDN
C0032962	Pregnancy Complications	group	BEFREE;LHGDN
C0033578	Prostatic Neoplasms	group	CTD_human;LHGDN
C0033860	Psoriasis	disease	BEFREE
C0033975	Psychotic Disorders	group	BEFREE
C0034065	Pulmonary Embolism	disease	BEFREE;CTD_human
C0034372	Quadriplegia	disease	BEFREE
C0034885	Rectal Neoplasms	group	BEFREE;LHGDN
C0035067	Renal Artery Stenosis	disease	BEFREE
C0035078	Kidney Failure	disease	BEFREE
C0035302	Retinal Artery Occlusion	disease	BEFREE
C0035309	Retinal Diseases	group	BEFREE
C0035328	Retinal Vein Occlusion	disease	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0035528	Riboflavin Deficiency	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;CTD_human;GWASDB;LHGDN
C0036421	Systemic Scleroderma	disease	BEFREE
C0036572	Seizures	phenotype	BEFREE;HPO
C0036646	Age-related cataract	disease	BEFREE
C0037198	Sinus Thrombosis, Intracranial	disease	BEFREE;CTD_human
C0037274	Dermatologic disorders	group	CTD_human
C0037354	Smallpox	disease	BEFREE
C0037771	Paraparesis, Spastic	phenotype	BEFREE
C0037928	Spinal Cord Diseases	group	BEFREE;CTD_human
C0038219	Status Dysraphicus	disease	CTD_human
C0038279	Sterility, Postpartum	phenotype	CTD_human
C0038356	Stomach Neoplasms	group	BEFREE;CTD_human;LHGDN
C0038362	Stomatitis	disease	BEFREE
C0038454	Cerebrovascular accident	group	BEFREE;CTD_human;HPO;LHGDN
C0039101	synovial sarcoma	disease	BEFREE
C0039240	Supraventricular tachycardia	disease	BEFREE
C0039263	Takayasu Arteritis	disease	LHGDN
C0039483	Giant Cell Arteritis	disease	BEFREE
C0039585	Androgen-Insensitivity Syndrome	disease	BEFREE
C0040015	Thrombasthenia	disease	BEFREE
C0040028	Thrombocythemia, Essential	disease	BEFREE
C0040034	Thrombocytopenia	phenotype	BEFREE;CTD_human
C0040053	Thrombosis	phenotype	LHGDN
C0040156	Thyrotoxicosis	disease	BEFREE;CTD_human
C0040425	Tonsillitis	disease	BEFREE
C0041107	Trisomy	group	BEFREE
C0041582	Ulcer	disease	BEFREE
C0041696	Unipolar Depression	disease	BEFREE;CTD_human;PSYGENET
C0041755	Adverse reaction to drug	group	CTD_human
C0041948	Uremia	disease	BEFREE
C0042373	Vascular Diseases	group	BEFREE;CTD_human
C0042487	Venous Thrombosis	phenotype	CTD_human;LHGDN
C0042847	Vitamin B 12 Deficiency	disease	BEFREE
C0042900	Vitiligo	disease	BEFREE
C0043144	Wheezing	phenotype	BEFREE
C0079731	B-Cell Lymphomas	group	LHGDN
C0079740	High Grade Lymphoma (neoplasm)	disease	CTD_human
C0079741	Lymphoma, Intermediate-Grade	disease	CTD_human
C0079744	Diffuse Large B-Cell Lymphoma	disease	BEFREE
C0079745	Lymphoma, Large-Cell, Follicular	disease	BEFREE;CTD_human
C0079747	Low Grade Lymphoma (neoplasm)	disease	CTD_human
C0079748	Precursor cell lymphoblastic lymphoma	disease	BEFREE
C0079757	Diffuse Mixed-Cell Lymphoma	disease	CTD_human
C0079758	Lymphoma, Mixed-Cell, Follicular	disease	CTD_human
C0079765	Lymphoma, Small Cleaved-Cell, Follicular	disease	CTD_human
C0079770	Lymphoma, Small Noncleaved-Cell	disease	CTD_human
C0079772	T-Cell Lymphoma	disease	BEFREE
C0080174	Spina Bifida Occulta	disease	BEFREE
C0080178	Spina Bifida	disease	BEFREE;CTD_human;LHGDN
C0080218	Tethered Cord Syndrome	disease	CTD_human
C0085077	Sweet Syndrome	disease	BEFREE
C0085083	Ovarian Hyperstimulation Syndrome	disease	BEFREE
C0085096	Peripheral Vascular Diseases	group	BEFREE;LHGDN
C0085166	Bacterial Vaginosis	disease	BEFREE
C0085183	Neoplasms, Second Primary	group	BEFREE
C0085215	Ovarian Failure, Premature	disease	BEFREE
C0085278	Antiphospholipid Syndrome	disease	BEFREE;LHGDN
C0085281	Addictive Behavior	phenotype	BEFREE
C0085409	Polyendocrinopathies, Autoimmune	group	BEFREE
C0085580	Essential Hypertension	disease	BEFREE
C0085652	Pyoderma Gangrenosum	disease	BEFREE
C0085669	Acute leukemia	disease	BEFREE
C0086132	Depressive Symptoms	phenotype	BEFREE
C0086133	Depressive Syndrome	disease	BEFREE;CTD_human
C0086543	Cataract	disease	BEFREE
C0086565	Liver Dysfunction	phenotype	CTD_human
C0086664	Myelocele	disease	CTD_human
C0086873	Pseudopelade	disease	CTD_human
C0086981	Sicca Syndrome	disease	BEFREE
C0087169	Withdrawal Symptoms	phenotype	BEFREE
C0149521	Pancreatitis, Chronic	disease	LHGDN
C0149721	Left Ventricular Hypertrophy	disease	LHGDN
C0149871	Deep Vein Thrombosis	disease	BEFREE;CTD_human
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE;LHGDN
C0151281	Genital ulcers	disease	BEFREE
C0151526	Premature Birth	phenotype	LHGDN
C0151744	Myocardial Ischemia	disease	BEFREE
C0151786	Muscle Weakness	phenotype	HPO
C0151945	Thrombosis of cerebral veins	group	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0152021	Congenital heart disease	group	BEFREE
C0152096	Complete trisomy 18 syndrome	disease	BEFREE
C0152234	Iniencephaly	disease	CTD_human
C0152426	Craniorachischisis	disease	CTD_human
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0153452	Malignant neoplasm of gallbladder	disease	BEFREE
C0154409	Recurrent major depressive episodes	disease	BEFREE
C0154575	Rumination Disorders	group	BEFREE
C0154723	Migraine with Aura	disease	BEFREE;LHGDN
C0154830	Proliferative diabetic retinopathy	disease	BEFREE
C0154841	Central retinal vein occlusion	disease	BEFREE
C0155305	Optic Neuropathy, Ischemic	disease	LHGDN
C0155626	Acute myocardial infarction	disease	BEFREE
C0155765	Disease of capillaries	group	BEFREE
C0155773	Portal vein thrombosis	disease	BEFREE
C0156147	Crohn's disease of large bowel	disease	CTD_human
C0158629	Congenital anomaly of aortic arch	group	BEFREE
C0162311	Androgenetic Alopecia	disease	CTD_human
C0162429	Malnutrition	disease	BEFREE;CTD_human
C0162635	Angelman Syndrome	disease	BEFREE
C0162871	Aortic Aneurysm, Abdominal	disease	BEFREE;LHGDN
C0202251	Vitamin B6 measurement	phenotype	GWASDB
C0206064	Microvascular Angina	disease	BEFREE;CTD_human
C0206368	Exfoliation Syndrome	disease	BEFREE;LHGDN
C0206677	Adenomatous Polyps	disease	BEFREE
C0206698	Cholangiocarcinoma	disease	BEFREE
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE;CTD_human;LHGDN
C0220605	Adult Non-Hodgkin Lymphoma	disease	BEFREE
C0220612	Childhood Non-Hodgkin Lymphoma	disease	BEFREE
C0220615	Adult Acute Myeloblastic Leukemia	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0220668	Congenital contractural arachnodactyly	disease	BEFREE
C0220810	Congenital defects	group	BEFREE
C0221074	Depression, Postpartum	disease	PSYGENET
C0221165	Diplegia	disease	BEFREE
C0221505	Lesion of brain	group	BEFREE
C0233514	Abnormal behavior	phenotype	BEFREE;HPO
C0235522	Disorder of vein	group	BEFREE
C0235782	Gallbladder Carcinoma	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0236788	Bipolar II disorder	disease	BEFREE
C0236792	Asperger Syndrome	disease	BEFREE
C0239946	Fibrosis, Liver	disease	BEFREE
C0240912	Vertical Talus	disease	BEFREE
C0242129	Thrombotic stroke	disease	BEFREE
C0242231	Coronary Stenosis	disease	BEFREE
C0242339	Dyslipidemias	group	BEFREE
C0242350	Erectile dysfunction	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE;CTD_human
C0242383	Age related macular degeneration	disease	BEFREE
C0242596	Neoplasm, Residual	phenotype	BEFREE
C0242666	Protein S Deficiency	disease	BEFREE
C0262584	Carcinoma, Small Cell	disease	BEFREE
C0263361	Psoriasis vulgaris	disease	BEFREE
C0263477	Female pattern alopecia (disorder)	disease	CTD_human
C0264408	Childhood asthma	disease	BEFREE
C0264657	Renal sclerosis with hypertension	disease	BEFREE
C0266452	Hemicephaly	disease	ORPHANET
C0266453	Exencephaly	disease	CTD_human
C0266508	Rachischisis	disease	CTD_human
C0266672	Amyelencephalus	disease	ORPHANET
C0267380	Crohn's disease of the ileum	disease	CTD_human
C0268074	Indian childhood cirrhosis	disease	BEFREE
C0268138	Xeroderma Pigmentosum, Complementation Group D	disease	BEFREE
C0268583	Methylmalonic acidemia	phenotype	BEFREE
C0268611	Arakawa syndrome 2	disease	BEFREE
C0268615	5,10-Methylenetetrahydrofolate reductase deficiency	disease	BEFREE
C0270612	Leukoencephalopathies	group	CTD_human
C0270639	Lateral Sinus Thrombosis	disease	LHGDN
C0270736	Essential Tremor	disease	BEFREE
C0274861	Arsenic Poisoning, Inorganic	disease	CTD_human
C0274862	Nervous System, Organic Arsenic Poisoning	disease	CTD_human
C0276496	Familial Alzheimer Disease (FAD)	disease	CTD_human
C0278480	Stage III Colon Cancer	disease	BEFREE
C0278484	Malignant neoplasm of colon stage IV	disease	BEFREE
C0278620	refractory plasma cell neoplasm	disease	BEFREE
C0278987	Non-small cell lung cancer metastatic	disease	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0279593	Adult B Acute Lymphoblastic Leukemia	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE
C0280803	Primary central nervous system lymphoma	disease	BEFREE
C0282126	Depression, Neurotic	disease	CTD_human
C0302356	incomplete anencephaly, hemicrania	disease	ORPHANET
C0302592	Cervix carcinoma	disease	BEFREE
C0311370	Lupus anticoagulant disorder	disease	BEFREE
C0311375	Arsenic Poisoning	disease	CTD_human
C0332853	Anastomosis	phenotype	BEFREE
C0333186	Restenosis	phenotype	BEFREE
C0333355	Inflammatory disease of mucous membrane	group	CTD_human
C0333641	Atrophic	phenotype	LHGDN
C0333873	Squamous intraepithelial lesion	phenotype	BEFREE
C0338480	Common Migraine	disease	BEFREE
C0338507	Non-arteritic ischemic optic neuropathy	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0338831	Manic	disease	CTD_human
C0338908	Mixed anxiety and depressive disorder	disease	BEFREE
C0339467	Proliferative retinopathy	disease	BEFREE
C0339505	Venous retinal branch occlusion	disease	BEFREE
C0339573	Glaucoma, Primary Open Angle	disease	BEFREE
C0341869	Subfertility, Female	disease	CTD_human
C0344479	Spinal Cord Myelodysplasia	disease	CTD_human
C0344622	Double inlet left ventricle	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0345905	Intrahepatic Cholangiocarcinoma	disease	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349204	Nonorganic psychosis	disease	BEFREE
C0349458	Cervical intraepithelial neoplasia grade 1	disease	BEFREE
C0349459	Cervical intraepithelial neoplasia grade 2	disease	BEFREE
C0376286	Avitaminosis	group	BEFREE
C0376338	Diagnosis, Psychiatric	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE;CTD_human
C0376545	Hematologic Neoplasms	group	LHGDN
C0393706	Early infantile epileptic encephalopathy with suppression bursts	disease	BEFREE
C0398621	Hypoplasminogenemia	disease	BEFREE
C0398623	Thrombophilia	disease	BEFREE;CTD_human;LHGDN
C0398625	Protein C Deficiency	disease	BEFREE
C0400966	Non-alcoholic Fatty Liver Disease	disease	BEFREE
C0405580	Adrenal cortical hypofunction	disease	HPO
C0406317	Chronic small plaque psoriasis	disease	BEFREE
C0406537	Morbilliform Drug Reaction	disease	CTD_human
C0409974	Lupus Erythematosus	disease	BEFREE
C0424295	Hyperactive behavior	phenotype	BEFREE
C0424605	Developmental delay (disorder)	disease	BEFREE
C0424688	Small head	phenotype	HPO
C0428883	Diastolic blood pressure	phenotype	GWASCAT
C0428886	Mean blood pressure	phenotype	GWASCAT
C0432416	Down Syndrome, Partial Trisomy 21	disease	CTD_human
C0432417	Trisomy 21, Meiotic Nondisjunction	disease	CTD_human
C0442874	Neuropathy	group	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE;CTD_human
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE;CTD_human
C0497327	Dementia	disease	BEFREE
C0497406	Overweight	phenotype	BEFREE
C0520966	Abnormal coordination	phenotype	HPO
C0521585	Gastrointestinal mucositis	disease	BEFREE
C0524528	Pervasive Development Disorder	group	BEFREE
C0524620	Metabolic Syndrome X	disease	BEFREE
C0524702	Pulmonary Thromboembolisms	disease	CTD_human
C0524851	Neurodegenerative Disorders	group	BEFREE
C0524910	Hepatitis C, Chronic	disease	BEFREE;LHGDN
C0524948	Maxillofacial Abnormalities	disease	CTD_human
C0525045	Mood Disorders	group	BEFREE;PSYGENET
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0546126	Acute Confusional Senile Dementia	disease	CTD_human
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0549410	Palmar-plantar erythrodysesthesia syndrome	disease	BEFREE
C0549473	Thyroid carcinoma	disease	BEFREE
C0553723	Squamous cell carcinoma of skin	disease	BEFREE
C0555198	Malignant Glioma	disease	BEFREE
C0557874	Global developmental delay	disease	BEFREE;HPO
C0559031	Functional Gastrointestinal Disorders	disease	CTD_human
C0565599	Maternal hypertension	disease	BEFREE
C0575081	Gait abnormality	group	HPO
C0577631	Carotid Atherosclerosis	disease	BEFREE
C0584960	Factor V Leiden mutation	disease	BEFREE
C0586323	Alcohol Withdrawal Seizures	disease	BEFREE
C0588008	Severe depression	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598608	Hyperhomocysteinemia	disease	BEFREE;CTD_human;LHGDN
C0598766	Leukemogenesis	disease	BEFREE
C0598798	Lymphoid neoplasm	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0600433	Activated Protein C Resistance	disease	BEFREE
C0677660	Emotional problems	phenotype	BEFREE
C0677898	invasive cancer	phenotype	BEFREE
C0678202	Regional enteritis	disease	CTD_human
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human
C0684249	Carcinoma of lung	disease	BEFREE
C0685896	Acephaly	disease	ORPHANET
C0687132	heavy drinking	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0699893	Skin carcinoma	disease	BEFREE
C0702169	Acrania	disease	CTD_human;ORPHANET
C0729353	Subfertility	disease	BEFREE
C0740394	Hyperuricemia	disease	BEFREE;LHGDN
C0741916	Cardiac defects	group	BEFREE
C0741923	cardiac event	phenotype	BEFREE
C0742343	Acute Chest Syndrome	disease	BEFREE
C0745103	Hyperlipoproteinemia Type IIa	disease	BEFREE
C0745744	End Stage Liver Disease	disease	BEFREE
C0746883	Febrile Neutropenia	disease	BEFREE
C0747845	early pregnancy	phenotype	BEFREE
C0750145	Occlusive vascular disease	disease	BEFREE
C0750900	Alzheimer's Disease, Focal Onset	disease	CTD_human
C0750901	Alzheimer Disease, Early Onset	disease	CTD_human
C0750927	Apraxia, Developmental Verbal	disease	BEFREE
C0750974	Brain Tumor, Primary	disease	BEFREE
C0751081	Trisomy 21, Mitotic Nondisjunction	disease	CTD_human
C0751202	Cystathionine beta-Synthase Deficiency Disease	disease	BEFREE
C0751295	Memory Loss	phenotype	BEFREE
C0751316	Acquired Meningomyelocele	phenotype	CTD_human
C0751500	Petrous Sinus Thrombophlebitis	disease	CTD_human
C0751501	Intracranial Sinus Thrombophlebitis	disease	CTD_human
C0751502	Petrous Sinus Thrombosis	disease	CTD_human
C0751606	Adult Acute Lymphocytic Leukemia	disease	BEFREE
C0751688	Malignant Squamous Cell Neoplasm	disease	BEFREE
C0751711	Anterior Ischemic Optic Neuropathy	disease	BEFREE
C0751851	Arsenic Encephalopathy	disease	CTD_human
C0751852	Arsenic Induced Polyneuropathy	disease	CTD_human
C0751956	Acute Cerebrovascular Accidents	disease	BEFREE;CTD_human
C0795690	Congenital omphalocele	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C0848676	Subfertility, Male	phenotype	CTD_human
C0850666	Infection caused by Helicobacter pylori	disease	BEFREE
C0851140	Carcinoma in situ of uterine cervix	disease	CTD_human
C0852077	Blood Coagulation Disorders, Inherited	group	CTD_human
C0852711	Sickle Cell Dactylitis	disease	BEFREE
C0852949	Arteriopathic disease	group	BEFREE
C0856169	Endothelial dysfunction	phenotype	BEFREE
C0856761	Budd-Chiari Syndrome	disease	BEFREE;LHGDN
C0856825	Acute GVH disease	disease	BEFREE
C0858252	Breast adenocarcinoma	disease	BEFREE
C0860207	Drug-Induced Liver Disease	disease	CTD_human
C0871189	Psychotic symptom	phenotype	BEFREE
C0871470	Systolic Pressure	phenotype	GWASCAT
C0872084	Sarcopenia	phenotype	BEFREE
C0917730	Female sterility	phenotype	CTD_human
C0917731	Male sterility	phenotype	CTD_human
C0917798	Cerebral Ischemia	disease	BEFREE;CTD_human
C0919267	ovarian neoplasm	disease	LHGDN
C0920269	Microsatellite Instability	phenotype	CTD_human
C0936215	Vitamin B 6 Deficiency	disease	BEFREE
C0948008	Ischemic stroke	disease	BEFREE
C0948089	Acute Coronary Syndrome	disease	BEFREE
C0948163	Leukoaraiosis	phenotype	LHGDN
C0948380	Colorectal cancer metastatic	disease	BEFREE
C0948480	Coronary Restenosis	disease	CTD_human
C0949272	IIeocolitis	disease	CTD_human
C1096293	Macroangiopathy	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1148477	Deafness, Sudden	phenotype	CTD_human
C1167791	Skin toxicity	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1261473	Sarcoma	group	LHGDN
C1262760	Hepatitis, Drug-Induced	disease	CTD_human
C1263846	Attention deficit hyperactivity disorder	disease	BEFREE
C1269683	Major Depressive Disorder	disease	BEFREE;PSYGENET
C1270972	Mild cognitive disorder	disease	BEFREE
C1271104	Blood pressure finding	phenotype	GWASDB
C1272641	Systemic arterial pressure	phenotype	GWASDB
C1292769	Precursor B-cell lymphoblastic leukemia	disease	BEFREE
C1298680	Occlusive stroke	disease	BEFREE
C1301700	Cardiovascular morbidity	phenotype	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1306889	Peripheral arterial occlusive disease	disease	BEFREE
C1332922	Cervical Squamous Intraepithelial Neoplasia	disease	BEFREE
C1332977	Childhood Leukemia	disease	BEFREE
C1333419	Liver and Intrahepatic Bile Duct Epithelial Neoplasm	disease	RGD
C1333762	Gastric Cardia Adenocarcinoma	disease	BEFREE
C1333976	Liver and Intrahepatic Bile Duct Neoplasm	group	RGD
C1333990	Hereditary Nonpolyposis Colorectal Cancer	disease	BEFREE
C1334177	Infiltrating Cervical Carcinoma	disease	BEFREE
C1336076	Sporadic Breast Carcinoma	disease	BEFREE
C1337013	Differentiated Thyroid Gland Carcinoma	disease	BEFREE
C1392786	Cognitive changes	phenotype	BEFREE
C1442965	Avascular necrosis of the capital femoral epiphysis	disease	BEFREE
C1443924	Severe diarrhea	phenotype	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;CTD_human;LHGDN
C1510471	Vitamin Deficiency	group	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1516490	Cholangiolocellular Carcinoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE;CTD_human
C1527304	Allergic Reaction	phenotype	CTD_human
C1559154	Rash and Dermatitis Adverse Event Associated with Chemoradiation	disease	BEFREE
C1561643	Chronic Kidney Diseases	group	BEFREE
C1563715	Andersen Syndrome	disease	BEFREE
C1565321	Cholera Infantum	disease	CTD_human
C1565489	Renal Insufficiency	disease	BEFREE
C1565662	Acute Kidney Insufficiency	disease	CTD_human
C1567742	Alport Syndrome, X-Linked	disease	BEFREE
C1568868	Oral Mucositis	disease	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1623038	Cirrhosis	disease	BEFREE
C1704436	Peripheral Arterial Diseases	group	BEFREE
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1721098	Replication Error Phenotype	phenotype	CTD_human
C1737329	Dysmorphism	disease	BEFREE
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE
C1827820	Fast acetylator due to N-acetyltransferase enzyme variant	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C1842981	NEUROTICISM	disease	BEFREE
C1845026	Neural tube defects X-linked	disease	MGD
C1845027	Spina Bifida, X-Linked	disease	MGD
C1847835	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	disease	BEFREE
C1848561	Methylmalonic acidemia with homocystinuria	disease	BEFREE
C1850406	NAVAJO NEUROHEPATOPATHY	disease	BEFREE
C1853238	Conotruncal defect	disease	BEFREE
C1855119	Methylmalonic aciduria	disease	BEFREE
C1855128	Methylcobalamin Deficiency, CblG Type	disease	BEFREE
C1856058	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	disease	BEFREE;CLINVAR;UNIPROT
C1856059	Mthfr Deficiency, Thermolabile Type	disease	UNIPROT
C1856061	Methylenetetrahydrofolate reductase deficiency	disease	BEFREE;CTD_human;ORPHANET
C1856689	FRIEDREICH ATAXIA 1	disease	BEFREE
C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	disease	CTD_human
C1859726	ARTERIAL TORTUOSITY SYNDROME	disease	BEFREE
C1861172	Venous Thromboembolism	phenotype	LHGDN
C1861453	Pseudohyperkalemia Cardiff	disease	BEFREE
C1861537	OROFACIAL CLEFT 1	disease	BEFREE
C1864897	Cognitive delay	phenotype	HPO
C1866558	Neural tube defect, folate-sensitive	disease	CTD_human;MGD
C1866559	Spina Bifida, Folate-Sensitive	disease	MGD
C1867743	Premature coronary artery disease	phenotype	BEFREE
C1883486	Uterine Corpus Cancer	disease	BEFREE
C1956130	Lymphoma, Follicular, Grade 1	disease	CTD_human
C1956131	Lymphoma, Follicular, Grade 3	disease	CTD_human
C1956132	Lymphoma, Follicular, Grade 2	disease	CTD_human
C1956346	Coronary Artery Disease	disease	BEFREE;GWASCAT;LHGDN
C1960883	Spina bifida aperta of cervical spine	disease	ORPHANET
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE;CTD_human;LHGDN
C2217040	malignant neoplasm of large intestine stage IV	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2242817	Homocysteine measurement	phenotype	GWASCAT;GWASDB
C2316810	Chronic kidney disease stage 5	disease	BEFREE
C2584409	Prothrombin G20210A mutation	disease	BEFREE
C2584620	Thrombophilia, hereditary	disease	BEFREE
C2585317	Acquired thrombophilia	disease	BEFREE
C2609414	Acute kidney injury	disease	CTD_human
C2711227	Steatohepatitis	disease	BEFREE
C2733158	Cerebral Small Vessel Diseases	group	BEFREE
C2751584	Neurodegeneration Due To Cerebral Folate Transport Deficiency	phenotype	GENOMICS_ENGLAND
C2931384	Moyamoya disease 1	disease	GWASCAT
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2936904	Opitz GBBB Syndrome, X-Linked	disease	BEFREE
C2937358	Cerebral Hemorrhage	phenotype	LHGDN
C2945695	Limb ischemia	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C2986622	Cervical Intraepithelial Neoplasia Grade 2/3	disease	BEFREE
C3146254	Stage III Colon Cancer AJCC v7	disease	BEFREE
C3160718	PARKINSON DISEASE, LATE-ONSET	disease	BEFREE
C3178801	Stroke, Lacunar	disease	BEFREE
C3241937	Nonalcoholic Steatohepatitis	disease	BEFREE
C3469521	FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	disease	BEFREE
C3495426	Homocysteinemia	disease	BEFREE
C3495549	Patent ductus arteriosus - persisting type	disease	BEFREE
C3495559	Juvenile arthritis	disease	BEFREE
C3536572	End stage renal disease due to hypertension	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3539909	Allergic disposition	phenotype	BEFREE
C3658290	Drug-Induced Acute Liver Injury	disease	CTD_human
C3662483	Allergic sensitization	disease	BEFREE
C3714514	Infection	group	LHGDN
C3714542	Lymphoma, Diffuse	disease	CTD_human
C3714636	Pneumonitis	disease	BEFREE
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;LHGDN
C3714757	Juvenile rheumatoid arthritis	disease	BEFREE
C3806347	Hyperhomocystinemia	phenotype	HPO
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C3826044	Lymphoblastic leukemia in children	disease	BEFREE
C3887461	Head and Neck Carcinoma	disease	BEFREE
C3887641	Recurrent hepatitis	disease	BEFREE
C4017062	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY	phenotype	CLINVAR
C4020875	Mental and motor retardation	phenotype	HPO
C4021107	Non-obstructive azoospermia	disease	BEFREE
C4023106	Obstructive azoospermia	disease	BEFREE
C4024948	Anterior encephalocele	disease	BEFREE
C4048328	cervical cancer	disease	BEFREE;CTD_human
C4083212	Alopecia, Male Pattern	phenotype	CTD_human
C4277682	Chemical and Drug Induced Liver Injury	disease	CTD_human
C4279912	Chemically-Induced Liver Toxicity	disease	CTD_human
C4302111	Familial M?ni?re disease	disease	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004489	methylenetetrahydrofolate reductase (NAD(P)H) activity	IGI
GO:0004489	methylenetetrahydrofolate reductase (NAD(P)H) activity	IDA
GO:0004489	methylenetetrahydrofolate reductase (NAD(P)H) activity	IMP
GO:0004489	methylenetetrahydrofolate reductase (NAD(P)H) activity	IBA
GO:0044877	protein-containing complex binding	IPI
GO:0050660	flavin adenine dinucleotide binding	IDA
GO:0050661	NADP binding	IEA
GO:0071949	FAD binding	IBA
GO:0072341	modified amino acid binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001666	response to hypoxia	IEA
GO:0001843	neural tube closure	IMP
GO:0001843	neural tube closure	NAS
GO:0006555	methionine metabolic process	IGI
GO:0006730	one-carbon metabolic process	IBA
GO:0009086	methionine biosynthetic process	IBA
GO:0031060	regulation of histone methylation	IDA
GO:0033274	response to vitamin B2	IEA
GO:0035999	tetrahydrofolate interconversion	IEA
GO:0035999	tetrahydrofolate interconversion	IGI
GO:0035999	tetrahydrofolate interconversion	IDA
GO:0035999	tetrahydrofolate interconversion	IMP
GO:0035999	tetrahydrofolate interconversion	IBA
GO:0043200	response to amino acid	IEA
GO:0046500	S-adenosylmethionine metabolic process	IEA
GO:0046655	folic acid metabolic process	TAS
GO:0050667	homocysteine metabolic process	IDA
GO:0051593	response to folic acid	IEA
GO:0055114	oxidation-reduction process	IEA
GO:0070555	response to interleukin-1	IEA
GO:0070829	heterochromatin maintenance	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	IBA
GO:0005829	cytosol	TAS
GO:0045202	synapse	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-196757	Metabolism of folate and pterines	TAS
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in decreased expression of MTHFR mRNA	26377693
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of MTHFR mRNA	22776087
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MTHFR mRNA	25510870
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of MTHFR mRNA	19114083
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MTHFR mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MTHFR mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MTHFR mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MTHFR mRNA	25510870
D015073	2-Acetylaminofluorene	2-Acetylaminofluorene results in decreased expression of MTHFR mRNA	22213190
D015073	2-Acetylaminofluorene	2-Acetylaminofluorene results in decreased methylation of MTHFR promoter	22213190
C013123	5,10-methylenetetrahydrofolic acid	MTHFR protein results in increased metabolism of 5,10-methylenetetrahydrofolic acid	16187112
C013123	5,10-methylenetetrahydrofolic acid	MTHFR protein results in increased reduction of 5,10-methylenetetrahydrofolic acid	7647779
C013123	5,10-methylenetetrahydrofolic acid	[MTHFR protein results in increased metabolism of 5,10-methylenetetrahydrofolic acid] which results in increased abundance of 5-methyltetrahydrofolate	30726997
C013123	5,10-methylenetetrahydrofolic acid	MTHFR protein results in increased reduction of 5,10-methylenetetrahydrofolic acid	17387702
C005984	5-methyltetrahydrofolate	MTHFR protein results in increased chemical synthesis of 5-methyltetrahydrofolate	7647779; 9719624;
C005984	5-methyltetrahydrofolate	[MTHFR protein results in increased metabolism of 5,10-methylenetetrahydrofolic acid] which results in increased abundance of 5-methyltetrahydrofolate	30726997
C011864	7-hydroxymethotrexate	MTHFR mRNA results in decreased susceptibility to 7-hydroxymethotrexate	19426680
C496492	abrine	abrine results in increased expression of MTHFR mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of MTHFR mRNA	21420995
D000082	Acetaminophen	Acetaminophen results in increased expression of MTHFR mRNA	26690555
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of MTHFR gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of MTHFR mRNA	19770486
C000593263	afuresertib	afuresertib results in increased expression of MTHFR mRNA	28960945
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of MTHFR mRNA	28522335
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of MTHFR mRNA	16483693
D003504	Ancitabine	MTHFR protein affects the susceptibility to Ancitabine	18202788
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of MTHFR mRNA	24449571
D001151	Arsenic	MTHFR gene polymorphism affects the metabolism of and affects the susceptibility to Arsenic	17365577; 17548696;
D001151	Arsenic	MTHFR gene polymorphism affects the metabolism of Arsenic	17637926
D001151	Arsenic	MTHFR gene SNP results in increased susceptibility to Arsenic	22747749
D001151	Arsenic	MTHFR polymorphism affects the metabolism of Arsenic	17365577
D001151	Arsenic	MTHFR polymorphism affects the methylation of Arsenic	17440589
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of MTHFR mRNA	29523930
C044946	benazepril	MTHFR gene polymorphism affects the susceptibility to benazepril	16081343
C044946	benazepril	MTHFR gene SNP affects the susceptibility to benazepril	20445573
C044946	benazepril	MTHFR gene polymorphism affects the susceptibility to benazepril	15226090
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of MTHFR mRNA	26377693
D001622	Betaine	[Betaine co-treated with Choline co-treated with Vitamin B 12 co-treated with Folic Acid] results in increased expression of MTHFR mRNA	28445388
C099952	bifenthrin	bifenthrin results in increased expression of MTHFR mRNA	26071804
C006780	bisphenol A	bisphenol A results in increased expression of MTHFR mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of MTHFR mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of MTHFR mRNA	26079696
D002117	Calcitriol	Calcitriol results in increased expression of MTHFR mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of MTHFR mRNA	21592394
D002251	Carbon Tetrachloride	[Diethylnitrosamine co-treated with Carbon Tetrachloride] results in increased expression of MTHFR mRNA	29127188
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of MTHFR mRNA	31150632
D002794	Choline	[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of MTHFR mRNA	23439872
D002794	Choline	[Choline deficiency co-treated with Folic Acid deficiency co-treated with Methionine deficiency] results in increased expression of MTHFR mRNA	29127188
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of MTHFR mRNA	20938992
D002794	Choline	[Betaine co-treated with Choline co-treated with Vitamin B 12 co-treated with Folic Acid] results in increased expression of MTHFR mRNA	28445388
D003024	Clozapine	MTHFR gene polymorphism affects the susceptibility to Clozapine	20547447
D003024	Clozapine	MTHFR protein affects the susceptibility to Clozapine	20547447
D060729	Coal Ash	MTHFR polymorphism affects the susceptibility to Coal Ash	21334974
D003300	Copper	MTHFR protein polymorphism affects the abundance of Copper	24583748
C093628	cyproconazole	cyproconazole results in increased expression of MTHFR mRNA	25182419
D003561	Cytarabine	MTHFR protein affects the susceptibility to Cytarabine	18202788
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of MTHFR mRNA]	27941970
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of MTHFR mRNA	26924002
D004041	Dietary Fats	Dietary Fats results in decreased expression of MTHFR mRNA	25016146
D004041	Dietary Fats	[Streptozocin co-treated with Dietary Fats] results in increased expression of MTHFR mRNA	29127188
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Carbon Tetrachloride] results in increased expression of MTHFR mRNA	29127188
D004052	Diethylnitrosamine	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of MTHFR mRNA	22129741
C024629	dimethyl phthalate	dimethyl phthalate results in decreased expression of MTHFR mRNA	26924002
C109476	epoxiconazole	epoxiconazole results in increased expression of MTHFR mRNA	25182419
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of MTHFR mRNA	23129252
D005467	Floxuridine	MTHFR protein affects the susceptibility to Floxuridine	18202788
D005472	Fluorouracil	MTHFR gene polymorphism affects the susceptibility to Fluorouracil	16399440; 16785472; 17047490; 19203896;
D005472	Fluorouracil	MTHFR gene polymorphism results in increased susceptibility to Fluorouracil	15735113; 18034621;
D005472	Fluorouracil	MTHFR gene polymorphism results in increased susceptibility to [Fluorouracil co-treated with Leucovorin]	18633250
D005472	Fluorouracil	MTHFR protein affects the susceptibility to Fluorouracil	15735113; 18034621;
D005472	Fluorouracil	MTHFR protein affects the susceptibility to Fluorouracil analog	15608557
D005472	Fluorouracil	MTHFR protein results in increased metabolism of Fluorouracil	18034621
D005492	Folic Acid	Folic Acid affects the expression of MTHFR mRNA	17311948
D005492	Folic Acid	[Folic Acid co-treated with MTHFR gene SNP] affects the methylation of MGMT promoter	17301267
D005492	Folic Acid	Folic Acid inhibits the reaction [MTHFR gene polymorphism results in increased activity of ACHE protein]	16375580
D005492	Folic Acid	MTHFR gene mutant form results in decreased abundance of Folic Acid	17115185
D005492	Folic Acid	MTHFR gene polymorphism affects the abundance of Folic Acid	16621645; 16690736;
D005492	Folic Acid	MTHFR gene polymorphism affects the metabolism of Folic Acid	20532609
D005492	Folic Acid	MTHFR gene polymorphism affects the reaction [Folic Acid affects the methylation of CDKN2A promoter]	16646054
D005492	Folic Acid	MTHFR gene SNP affects the abundance of Folic Acid	21869730
D005492	Folic Acid	MTHFR protein affects the metabolism of Folic Acid	20547447
D005492	Folic Acid	[Choline deficiency co-treated with Folic Acid deficiency] affects the expression of MTHFR mRNA	23439872
D005492	Folic Acid	[Choline deficiency co-treated with Folic Acid deficiency co-treated with Methionine deficiency] results in increased expression of MTHFR mRNA	29127188
D005492	Folic Acid	Folic Acid inhibits the reaction [Methotrexate results in decreased expression of MTHFR mRNA]	30502384
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of MTHFR mRNA	20938992
D005492	Folic Acid	[Betaine co-treated with Choline co-treated with Vitamin B 12 co-treated with Folic Acid] results in increased expression of MTHFR mRNA	28445388
D006046	Gold	[Gold co-treated with Polyethylene Glycols] results in decreased expression of MTHFR mRNA	19695318
C000593030	GSK-J4	GSK-J4 results in decreased expression of MTHFR mRNA	29301935
C412815	GW 4064	GW 4064 results in decreased expression of MTHFR mRNA	29416063
C412815	GW 4064	NR0B2 protein promotes the reaction [GW 4064 results in decreased expression of MTHFR mRNA]	29416063
D006710	Homocysteine	Homocysteine inhibits the reaction [Simvastatin results in increased expression of MTHFR protein modified form]	18540024
D006710	Homocysteine	Homocysteine results in increased expression of MTHFR protein	18540024
D006710	Homocysteine	MTHFR gene polymorphism results in increased abundance of Homocysteine	19646848
D006710	Homocysteine	MTHFR protein affects the metabolism of Homocysteine	20547447
D006710	Homocysteine	MTHFR protein mutant form results in increased abundance of Homocysteine	7647779
D006710	Homocysteine	MTHFR protein SNP results in decreased methylation of Homocysteine	17387702
D006710	Homocysteine	Simvastatin promotes the reaction [Homocysteine results in increased expression of MTHFR protein]	18540024
D006710	Homocysteine	[MTHFR gene mutant form co-treated with Methotrexate] results in increased abundance of Homocysteine	19593106
D006710	Homocysteine	MTHFR protein affects the abundance of Homocysteine metabolite	19204075
D006710	Homocysteine	[MTHFR protein results in increased methylation of Homocysteine] which results in increased chemical synthesis of Methionine	18234410
C016517	indole-3-carbinol	[indole-3-carbinol co-treated with Diethylnitrosamine] results in increased expression of MTHFR mRNA	22129741
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MTHFR mRNA	25613284
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of MTHFR mRNA	24231268
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of MTHFR mRNA	24796395
D048628	Ketolides	Ketolides analog results in decreased expression of MTHFR mRNA	24967691
D002955	Leucovorin	MTHFR gene polymorphism results in increased susceptibility to [Fluorouracil co-treated with Leucovorin]	18633250
D008344	Maneb	[Paraquat co-treated with Maneb] results in decreased expression of MTHFR mRNA	18386188
D008715	Methionine	[Choline deficiency co-treated with Folic Acid deficiency co-treated with Methionine deficiency] results in increased expression of MTHFR mRNA	29127188
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of MTHFR mRNA	20938992
D008715	Methionine	[MTHFR protein results in increased methylation of Homocysteine] which results in increased chemical synthesis of Methionine	18234410
D008727	Methotrexate	Methotrexate results in decreased expression of MTHFR mRNA	24449571
D008727	Methotrexate	Methotrexate results in increased expression of MTHFR mRNA	23838799
D008727	Methotrexate	MTHFR gene polymorphism affects the abundance of Methotrexate	24241962
D008727	Methotrexate	MTHFR gene polymorphism affects the metabolism of Methotrexate	15753437
D008727	Methotrexate	MTHFR gene polymorphism affects the susceptibility to Methotrexate	19821069; 21064136; 22104130; 25007187;
D008727	Methotrexate	MTHFR gene SNP affects the susceptibility to Methotrexate	17488658; 18381794;
D008727	Methotrexate	MTHFR gene SNP results in decreased metabolism of Methotrexate	19391036
D008727	Methotrexate	MTHFR mRNA results in decreased susceptibility to Methotrexate	19426680
D008727	Methotrexate	MTHFR polymorphism results in increased susceptibility to Methotrexate	21887680
D008727	Methotrexate	MTHFR protein affects the susceptibility to Methotrexate	17502830
D008727	Methotrexate	Folic Acid inhibits the reaction [Methotrexate results in decreased expression of MTHFR mRNA]	30502384
D008727	Methotrexate	Methotrexate affects the expression of MTHFR mRNA	18502557
D008727	Methotrexate	Methotrexate results in decreased expression of MTHFR mRNA	30502384
D008727	Methotrexate	[MTHFR gene mutant form co-treated with Methotrexate] results in increased abundance of Homocysteine	19593106
D008727	Methotrexate	MTHFR gene mutant form results in increased susceptibility to Methotrexate	19593106
D008727	Methotrexate	MTHFR protein affects the susceptibility to Methotrexate	18551038
D008727	Methotrexate	DHFR protein inhibits the reaction [Methotrexate results in decreased expression of MTHFR mRNA]	30502384
D008727	Methotrexate	MTHFR protein results in increased metabolism of Methotrexate	19391036
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of MTHFR mRNA	26011545
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of MTHFR mRNA	26924002
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of MTHFR mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of MTHFR mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of MTHFR mRNA	25554681; 25620056;
C017096	n-butoxyethanol	n-butoxyethanol results in increased expression of MTHFR mRNA	19812364
D009532	Nickel	Nickel results in increased expression of MTHFR mRNA	24768652; 25583101;
D000077152	Olanzapine	MTHFR gene polymorphism affects the susceptibility to Olanzapine	20547447
D000077152	Olanzapine	MTHFR protein affects the susceptibility to Olanzapine	20547447
D010269	Paraquat	MTHFR gene polymorphism affects the susceptibility to Paraquat	30726997
D010269	Paraquat	[MTHFR gene polymorphism affects the susceptibility to Paraquat] which results in increased expression of AIF1 protein	30726997
D010269	Paraquat	[MTHFR gene polymorphism affects the susceptibility to Paraquat] which results in increased expression of CD68 protein	30726997
D010269	Paraquat	[MTHFR gene polymorphism affects the susceptibility to Paraquat] which results in increased expression of NOX1 protein	30726997
D010269	Paraquat	[MTHFR gene polymorphism affects the susceptibility to Paraquat] which results in increased expression of SOD2 protein	30726997
D010269	Paraquat	[Paraquat co-treated with Maneb] results in decreased expression of MTHFR mRNA	18386188
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of MTHFR mRNA	25510870
C046012	pentanal	pentanal results in decreased expression of MTHFR mRNA	26079696
D010575	Pesticides	MTHFR gene SNP affects the susceptibility to Pesticides	29967663
C006253	pirinixic acid	pirinixic acid results in increased expression of MTHFR mRNA	18301758; 20813756; 23811191;
D011092	Polyethylene Glycols	[Gold co-treated with Polyethylene Glycols] results in decreased expression of MTHFR mRNA	19695318
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride results in decreased expression of MTHFR mRNA	15849065
D012256	Riboflavin	MTHFR gene polymorphism affects the susceptibility to Riboflavin	17303386
D012312	Ritodrine	Ritodrine results in decreased expression of MTHFR mRNA	23370008
D000077154	Rosiglitazone	MTHFR affects the susceptibility to Rosiglitazone	19951259
D012834	Silver	Silver results in decreased expression of MTHFR mRNA	27131904
D019821	Simvastatin	Homocysteine inhibits the reaction [Simvastatin results in increased expression of MTHFR protein modified form]	18540024
D019821	Simvastatin	Simvastatin promotes the reaction [Homocysteine results in increased expression of MTHFR protein]	18540024
D019821	Simvastatin	Simvastatin results in increased expression of MTHFR protein modified form	18540024
D019821	Simvastatin	MTHFR affects the susceptibility to Simvastatin	18540024
D019821	Simvastatin	MTHFR gene mutant form inhibits the reaction [Simvastatin results in increased expression of APOA1 protein]	18540024
D019821	Simvastatin	MTHFR inhibits the reaction [Simvastatin results in increased expression of NOS2 mRNA]	18540024
D019821	Simvastatin	MTHFR inhibits the reaction [Simvastatin results in increased expression of NOS2 protein]	18540024
C009277	sodium arsenate	MTHFR gene mutant form results in increased susceptibility to sodium arsenate	24384392
C017947	sodium arsenite	sodium arsenite results in decreased expression of MTHFR mRNA	30664189
C017947	sodium arsenite	sodium arsenite results in decreased expression of MTHFR protein	19766132
C017947	sodium arsenite	sodium arsenite results in increased expression of MTHFR mRNA	30357543
D013311	Streptozocin	[Streptozocin co-treated with Dietary Fats] results in increased expression of MTHFR mRNA	29127188
D012460	Sulfasalazine	MTHFR gene polymorphism results in increased susceptibility to Sulfasalazine	19578646
D012460	Sulfasalazine	MTHFR protein results in increased susceptibility to Sulfasalazine	19578646
D000077210	Sunitinib	Sunitinib results in increased expression of MTHFR mRNA	31533062
D013629	Tamoxifen	Tamoxifen results in decreased expression of MTHFR mRNA	15849065
D013629	Tamoxifen	Tamoxifen results in increased expression of MTHFR mRNA	25123088
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of MTHFR mRNA	21592394
D013739	Testosterone	Testosterone results in increased expression of MTHFR mRNA	21592394
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MTHFR mRNA	28922406
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of MTHFR mRNA	25613284
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased methylation of MTHFR promoter	25214829
D014212	Tretinoin	Tretinoin results in decreased expression of MTHFR mRNA	23724009
D014212	Tretinoin	Tretinoin results in increased expression of MTHFR mRNA	23830798
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of MTHFR mRNA	26179874
D000077288	Troglitazone	Troglitazone results in increased expression of MTHFR mRNA	28973697
D014635	Valproic Acid	Valproic Acid results in increased expression of MTHFR mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased methylation of MTHFR gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of MTHFR mRNA	9188671
D020888	Vigabatrin	MTHFR results in increased susceptibility to Vigabatrin	21490592
D014805	Vitamin B 12	[Betaine co-treated with Choline co-treated with Vitamin B 12 co-treated with Folic Acid] results in increased expression of MTHFR mRNA	28445388

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0021	Allosteric enzyme
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-0274	FAD
KW-0285	Flavoprotein
KW-0521	NADP
KW-0560	Oxidoreductase
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-1211	Schizophrenia

Interpro

InterPro ID	InterPro Term
IPR029041	FAD-linked_oxidoreductase-like
IPR004621	Fadh2_euk
IPR003171	Mehydrof_redctse

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF02219	MTHFR

Gene: MTHFR

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction