rs4691643

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0320 (9549/29808,GnomAD)
T=0273 (7959/29118,TOPMED)
T=0329 (1648/5008,1000G)
T=0373 (1439/3854,ALSPAC)
T=0366 (1358/3708,TWINSUK)
chr4:155457416 (GRCh38.p7) (4q32.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
14 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.155457416C>T
GRCh37.p13 chr 4NC_000004.11:g.156378568C>T
MTCO3P9 pseudogeneNG_046491.1:g.645G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.794T=0.206
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.617T=0.383
1000GenomesEuropeSub1006C=0.625T=0.375
1000GenomesGlobalStudy-wide5008C=0.671T=0.329
1000GenomesSouth AsianSub978C=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.627T=0.373
The Genome Aggregation DatabaseAfricanSub8696C=0.806T=0.194
The Genome Aggregation DatabaseAmericanSub834C=0.790T=0.210
The Genome Aggregation DatabaseEast AsianSub1554C=0.589T=0.411
The Genome Aggregation DatabaseEuropeSub18422C=0.622T=0.377
The Genome Aggregation DatabaseGlobalStudy-wide29808C=0.679T=0.320
The Genome Aggregation DatabaseOtherSub302C=0.680T=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.726T=0.273
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.634T=0.366
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs46916430.000767alcohol consumption (maxi-drinks)24277619

eQTL of rs4691643 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 rs4691643 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 )
chr4156363895156364028E068-14540

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr4156363406156363473E067-15095
chr4156363509156363869E067-14699
chr4156363406156363473E068-15095
chr4156363509156363869E068-14699
chr4156417553156417629E06838985
chr4156418253156418341E06839685
chr4156418613156418717E06840045
chr4156363406156363473E069-15095
chr4156363509156363869E069-14699
chr4156363406156363473E071-15095
chr4156363509156363869E071-14699
chr4156363406156363473E073-15095
chr4156363509156363869E073-14699
chr4156363406156363473E081-15095