SNP Detail Info-rs6933598

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 6	NC_000006.12:g.150938634C>G
GRCh37.p13 chr 6	NC_000006.11:g.151259770C>G
MTHFD1L RefSeqGene	NG_029185.1:g.77956C>G

Gene: MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MTHFD1L transcript variant 1	NM_001242767.1:c.	N/A	Intron Variant
MTHFD1L transcript variant 3	NM_001242768.1:c.	N/A	Intron Variant
MTHFD1L transcript variant 2	NM_015440.4:c.	N/A	Intron Variant
MTHFD1L transcript variant 4	NM_001242769.1:c.	N/A	Genic Downstream Transcript Variant
MTHFD1L transcript variant X2	XM_005266907.4:c.	N/A	Intron Variant
MTHFD1L transcript variant X1	XM_005266910.4:c.	N/A	Intron Variant
MTHFD1L transcript variant X20	XM_005266911.4:c.	N/A	Intron Variant
MTHFD1L transcript variant X5	XM_011535729.2:c.	N/A	Intron Variant
MTHFD1L transcript variant X7	XM_011535730.2:c.	N/A	Intron Variant
MTHFD1L transcript variant X8	XM_011535731.2:c.	N/A	Intron Variant
MTHFD1L transcript variant X9	XM_011535732.2:c.	N/A	Intron Variant
MTHFD1L transcript variant X10	XM_011535733.2:c.	N/A	Intron Variant
MTHFD1L transcript variant X11	XM_011535734.2:c.	N/A	Intron Variant
MTHFD1L transcript variant X17	XM_011535737.2:c.	N/A	Intron Variant
MTHFD1L transcript variant X18	XM_011535738.2:c.	N/A	Intron Variant
MTHFD1L transcript variant X3	XM_017010702.1:c.	N/A	Intron Variant
MTHFD1L transcript variant X4	XM_017010703.1:c.	N/A	Intron Variant
MTHFD1L transcript variant X8	XM_017010704.1:c.	N/A	Intron Variant
MTHFD1L transcript variant X12	XM_017010705.1:c.	N/A	Intron Variant
MTHFD1L transcript variant X13	XM_017010706.1:c.	N/A	Intron Variant
MTHFD1L transcript variant X14	XM_017010707.1:c.	N/A	Intron Variant
MTHFD1L transcript variant X15	XM_017010708.1:c.	N/A	Intron Variant
MTHFD1L transcript variant X16	XR_001743322.1:n.	N/A	Intron Variant
MTHFD1L transcript variant X19	XR_001743323.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.358	G=0.642
1000Genomes	American	Sub	694	C=0.670	G=0.330
1000Genomes	East Asian	Sub	1008	C=0.970	G=0.030
1000Genomes	Europe	Sub	1006	C=0.737	G=0.263
1000Genomes	Global	Study-wide	5008	C=0.672	G=0.328
1000Genomes	South Asian	Sub	978	C=0.720	G=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.738	G=0.262
The Genome Aggregation Database	African	Sub	8696	C=0.407	G=0.593
The Genome Aggregation Database	American	Sub	836	C=0.640	G=0.360
The Genome Aggregation Database	East Asian	Sub	1610	C=0.982	G=0.018
The Genome Aggregation Database	Europe	Sub	18444	C=0.745	G=0.254
The Genome Aggregation Database	Global	Study-wide	29888	C=0.657	G=0.342
The Genome Aggregation Database	Other	Sub	302	C=0.840	G=0.160
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.601	G=0.399
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.722	G=0.278

PMID	Title	Author	Journal
23422394	Genetic analysis of a population heavy drinking phenotype identifies risk variants in whites.	Hamidovic A	J Clin Psychopharmacol

P-Value

SNP ID	p-value	Traits	Study
rs6933598	7.46E-05	alcohol consumption (Heavy)	23422394

eQTL of rs6933598 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 rs6933598 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr6	151219418	151219897	E068	-39873
chr6	151216788	151216877	E069	-42893
chr6	151227314	151229024	E069	-30746
chr6	151215749	151216735	E071	-43035
chr6	151216788	151216877	E071	-42893
chr6	151257238	151257329	E074	-2441
chr6	151257355	151257442	E074	-2328
chr6	151257578	151257649	E074	-2121
chr6	151215749	151216735	E081	-43035
chr6	151259706	151259845	E081	0
chr6	151259917	151260057	E081	147
chr6	151260217	151260426	E081	447
chr6	151260559	151260622	E081	789
chr6	151260723	151260803	E081	953

rs6933598

Genomic Coordinates

Gene: MTHFD1L, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like(plus strand)

Population Frequency

P-Value

eQTL of rs6933598 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs6933598 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)