rs4631693

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0205 (6161/29922,GnomAD)
T=0214 (6246/29118,TOPMED)
T=0208 (1044/5008,1000G)
T=0267 (1028/3854,ALSPAC)
T=0273 (1013/3708,TWINSUK)
chr1:110853466 (GRCh38.p7) (1p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.110853466C>T
GRCh37.p13 chr 1NC_000001.10:g.111396088C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.894T=0.106
1000GenomesAmericanSub694C=0.700T=0.300
1000GenomesEast AsianSub1008C=0.883T=0.117
1000GenomesEuropeSub1006C=0.716T=0.284
1000GenomesGlobalStudy-wide5008C=0.792T=0.208
1000GenomesSouth AsianSub978C=0.700T=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.733T=0.267
The Genome Aggregation DatabaseAfricanSub8722C=0.880T=0.120
The Genome Aggregation DatabaseAmericanSub836C=0.690T=0.310
The Genome Aggregation DatabaseEast AsianSub1614C=0.879T=0.121
The Genome Aggregation DatabaseEuropeSub18448C=0.754T=0.246
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.794T=0.205
The Genome Aggregation DatabaseOtherSub302C=0.610T=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.785T=0.214
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.727T=0.273
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs46316930.000075alcohol dependence(early age of onset)20201924
rs46316930.0000753alcoholismpha002892
rs46316930.00031alcohol dependence20201924

eQTL of rs4631693 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:111396088CD53ENSG00000143119.8C>T1.5723e-7-19687Frontal_Cortex_BA9
Chr1:111396088CD53ENSG00000143119.8C>T8.9309e-6-19687Cortex

meQTL of rs4631693 in Fetal Brain

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

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 )
chr1111413648111414008E07417560
chr1111414054111414126E07417966

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1111416015111416216E06719927
chr1111416227111416294E06720139
chr1111416347111416913E06720259
chr1111416015111416216E06819927
chr1111416227111416294E06820139
chr1111416347111416913E06820259
chr1111416919111417581E06820831
chr1111417654111418436E06821566
chr1111416347111416913E06920259
chr1111415395111415943E07119307
chr1111416015111416216E07119927
chr1111416227111416294E07120139
chr1111416347111416913E07120259
chr1111416919111417581E07120831
chr1111417654111418436E07121566
chr1111418524111418574E07122436
chr1111416347111416913E07220259
chr1111416919111417581E07220831
chr1111417654111418436E07221566
chr1111418524111418574E07222436
chr1111416015111416216E07419927
chr1111416227111416294E07420139
chr1111416347111416913E07420259
chr1111417654111418436E07421566
chr1111418524111418574E07422436