rs17034763

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0475 (14220/29884,GnomAD)
T=0454 (13232/29116,TOPMED)
T=0473 (2371/5008,1000G)
T=0472 (1819/3854,ALSPAC)
T=0475 (1763/3708,TWINSUK)
chr2:67977281 (GRCh38.p7) (2p14)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.67977281C>T
GRCh37.p13 chr 2NC_000002.11:g.68204413C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.583T=0.417
1000GenomesAmericanSub694C=0.540T=0.460
1000GenomesEast AsianSub1008C=0.480T=0.520
1000GenomesEuropeSub1006C=0.500T=0.500
1000GenomesGlobalStudy-wide5008C=0.527T=0.473
1000GenomesSouth AsianSub978C=0.510T=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.528T=0.472
The Genome Aggregation DatabaseAfricanSub8712C=0.565T=0.435
The Genome Aggregation DatabaseAmericanSub836C=0.540T=0.460
The Genome Aggregation DatabaseEast AsianSub1592C=0.526T=0.474
The Genome Aggregation DatabaseEuropeSub18442C=0.504T=0.496
The Genome Aggregation DatabaseGlobalStudy-wide29884C=0.524T=0.475
The Genome Aggregation DatabaseOtherSub302C=0.530T=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.545T=0.454
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.525T=0.475
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
rs170347630.000377alcohol dependence24277619

eQTL of rs17034763 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 rs17034763 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 )
chr26820176968202350E068-2063
chr26820247968202539E068-1874
chr26820259268202678E068-1735
chr26820176968202350E069-2063
chr26820247968202539E069-1874
chr26820259268202678E069-1735
chr26815730768157679E070-46734
chr26817232368172418E070-31995
chr26817319968173441E070-30972
chr26817348368173803E070-30610
chr26817389468173982E070-30431
chr26817407568174185E070-30228
chr26820176968202350E070-2063
chr26820259268202678E070-1735
chr26820176968202350E073-2063
chr26820247968202539E073-1874
chr26820259268202678E073-1735
chr26820176968202350E074-2063
chr26820247968202539E074-1874
chr26820259268202678E074-1735
chr26817389468173982E081-30431
chr26817407568174185E081-30228
chr26820259268202678E081-1735