rs4332037

Homo sapiens
C>T
MAD1L1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0191 (5727/29892,GnomAD)
T=0165 (4809/29118,TOPMED)
T=0180 (902/5008,1000G)
T=0165 (637/3854,ALSPAC)
T=0170 (631/3708,TWINSUK)
chr7:1911173 (GRCh38.p7) (7p22.3)
AD
GWASdb2
3   publication(s)
See rs on genome
175 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.1911173C>T
GRCh37.p13 chr 7NC_000007.13:g.1950809C>T
MAD1L1 RefSeqGeneNG_011518.1:g.326775G>A

Gene: MAD1L1, MAD1 mitotic arrest deficient like 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MAD1L1 transcript variant 2NM_001013836.1:c.N/AIntron Variant
MAD1L1 transcript variant 3NM_001013837.1:c.N/AIntron Variant
MAD1L1 transcript variant 4NM_001304523.1:c.N/AIntron Variant
MAD1L1 transcript variant 5NM_001304524.1:c.N/AIntron Variant
MAD1L1 transcript variant 6NM_001304525.1:c.N/AIntron Variant
MAD1L1 transcript variant 1NM_003550.2:c.N/AIntron Variant
MAD1L1 transcript variant X4XM_005249877.1:c.N/AIntron Variant
MAD1L1 transcript variant X2XM_011515567.1:c.N/AIntron Variant
MAD1L1 transcript variant X5XM_011515569.2:c.N/AIntron Variant
MAD1L1 transcript variant X8XM_011515571.1:c.N/AIntron Variant
MAD1L1 transcript variant X1XM_017012690.1:c.N/AIntron Variant
MAD1L1 transcript variant X6XM_017012691.1:c.N/AIntron Variant
MAD1L1 transcript variant X4XM_011515568.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.847T=0.153
1000GenomesAmericanSub694C=0.850T=0.150
1000GenomesEast AsianSub1008C=0.866T=0.134
1000GenomesEuropeSub1006C=0.808T=0.192
1000GenomesGlobalStudy-wide5008C=0.820T=0.180
1000GenomesSouth AsianSub978C=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.835T=0.165
The Genome Aggregation DatabaseAfricanSub8710C=0.839T=0.161
The Genome Aggregation DatabaseAmericanSub838C=0.840T=0.160
The Genome Aggregation DatabaseEast AsianSub1620C=0.891T=0.109
The Genome Aggregation DatabaseEuropeSub18422C=0.784T=0.215
The Genome Aggregation DatabaseGlobalStudy-wide29892C=0.808T=0.191
The Genome Aggregation DatabaseOtherSub302C=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.834T=0.165
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.830T=0.170
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21926972Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.-Nat Genet
23637625Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate.Andreassen OAPLoS Genet

P-Value

SNP ID p-value Traits Study
rs43320370.000463alcohol dependence20201924

eQTL of rs4332037 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs4332037 in Fetal Brain

Probe ID Position Gene beta p-value
cg10840412chr1:235813424GNG40.02711622865191542.8618e-14

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr719588261958919E0678017
chr719589601959045E0678151
chr719590731959178E0678264
chr719591891960847E0678380
chr719588261958919E0688017
chr719589601959045E0688151
chr719590731959178E0688264
chr719047581904817E069-45992
chr719234441923493E069-27316
chr719235031923561E069-27248
chr719236561923838E069-26971
chr719239051924045E069-26764
chr719569131957021E0696104
chr719570551957437E0696246
chr719588261958919E0698017
chr719589601959045E0698151
chr719590731959178E0698264
chr719591891960847E0698380
chr719073301907404E070-43405
chr719074101907482E070-43327
chr719076181907745E070-43064
chr719295581929617E070-21192
chr719296551929717E070-21092
chr719297711929915E070-20894
chr719317171932200E070-18609
chr719322711932421E070-18388
chr719325311932652E070-18157
chr719326591932731E070-18078
chr719327661933045E070-17764
chr719332641933331E070-17478
chr719396221940042E070-10767
chr719405121940552E070-10257
chr719407401940827E070-9982
chr719495391949621E070-1188
chr719498621949912E070-897
chr719523001952914E0701491
chr719529301953021E0702121
chr719531101953401E0702301
chr719569131957021E0706104
chr719570551957437E0706246
chr719574461957578E0706637
chr719580041958058E0707195
chr719582471958346E0707438
chr719584021958470E0707593
chr719590731959178E0708264
chr719816981982146E07030889
chr719821811982284E07031372
chr719894321989482E07038623
chr719896051989686E07038796
chr719897071990003E07038898
chr719900291990163E07039220
chr719902241990281E07039415
chr719902961990336E07039487
chr719904621990555E07039653
chr719906841991202E07039875
chr719024731902643E071-48166
chr719387531939340E071-11469
chr719522401952283E0711431
chr719523001952914E0711491
chr719580041958058E0717195
chr719582471958346E0717438
chr719584021958470E0717593
chr719585301958679E0717721
chr719587331958790E0717924
chr719588261958919E0718017
chr719589601959045E0718151
chr719590731959178E0718264
chr719591891960847E0718380
chr719387531939340E072-11469
chr719396221940042E072-10767
chr719585301958679E0727721
chr719587331958790E0727924
chr719588261958919E0728017
chr719589601959045E0728151
chr719590731959178E0728264
chr719591891960847E0728380
chr719904621990555E07239653
chr719906841991202E07239875
chr719053171905577E073-45232
chr719588261958919E0738017
chr719589601959045E0738151
chr719590731959178E0738264
chr719591891960847E0738380
chr719906841991202E07339875
chr719387531939340E074-11469
chr719585301958679E0747721
chr719587331958790E0747924
chr719588261958919E0748017
chr719589601959045E0748151
chr719590731959178E0748264
chr719591891960847E0748380
chr719042821904427E081-46382
chr719047581904817E081-45992
chr719051021905294E081-45515
chr719053171905577E081-45232
chr719056091905684E081-45125
chr719151461915455E081-35354
chr719325311932652E081-18157
chr719326591932731E081-18078
chr719327661933045E081-17764
chr719332641933331E081-17478
chr719396221940042E081-10767
chr719405121940552E081-10257
chr719407401940827E081-9982
chr719409071940961E081-9848
chr719411331941272E081-9537
chr719414131941479E081-9330
chr719515671951660E081758
chr719516981951903E081889
chr719519951952049E0811186
chr719522401952283E0811431
chr719523001952914E0811491
chr719529301953021E0812121
chr719531101953401E0812301
chr719564331956621E0815624
chr719566921956813E0815883
chr719569131957021E0816104
chr719570551957437E0816246
chr719574461957578E0816637
chr719580041958058E0817195
chr719582471958346E0817438
chr719584021958470E0817593
chr719585301958679E0817721
chr719587331958790E0817924
chr719588261958919E0818017
chr719589601959045E0818151
chr719590731959178E0818264
chr719591891960847E0818380
chr719610811961135E08110272
chr719633451963489E08112536
chr719688721969094E08118063
chr719735541973644E08122745
chr719737161973827E08122907
chr719739401974181E08123131
chr719843521984513E08133543
chr719854951985553E08134686
chr719855651985645E08134756
chr719859211986309E08135112
chr719864541986574E08135645
chr719866241986749E08135815
chr719867701986889E08135961
chr719869751987133E08136166
chr719871641987214E08136355
chr719873131987544E08136504
chr719875901987640E08136781
chr719923971992551E08141588
chr719927071992783E08141898
chr719051021905294E082-45515
chr719053171905577E082-45232
chr719056091905684E082-45125
chr719396221940042E082-10767
chr719405121940552E082-10257
chr719414131941479E082-9330
chr719522401952283E0821431
chr719523001952914E0821491
chr719529301953021E0822121
chr719564331956621E0825624
chr719566921956813E0825883
chr719569131957021E0826104
chr719570551957437E0826246
chr719574461957578E0826637
chr719580041958058E0827195
chr719591891960847E0828380
chr719633451963489E08212536
chr719638711964192E08213062
chr719737161973827E08222907
chr719739401974181E08223131
chr719741981974399E08223389
chr719855651985645E08234756
chr719859211986309E08235112
chr719864541986574E08235645
chr719866241986749E08235815
chr719867701986889E08235961
chr719869751987133E08236166
chr719906841991202E08239875