rs9864764

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0098 (2946/29898,GnomAD)
C=0128 (3728/29118,TOPMED)
C=0124 (623/5008,1000G)
C=0063 (241/3854,ALSPAC)
C=0053 (195/3708,TWINSUK)
chr3:190996798 (GRCh38.p7) (3q28)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.190996798A>C
GRCh37.p13 chr 3NC_000003.11:g.190714587A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.741C=0.259
1000GenomesAmericanSub694A=0.940C=0.060
1000GenomesEast AsianSub1008A=0.963C=0.037
1000GenomesEuropeSub1006A=0.955C=0.045
1000GenomesGlobalStudy-wide5008A=0.876C=0.124
1000GenomesSouth AsianSub978A=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.937C=0.063
The Genome Aggregation DatabaseAfricanSub8712A=0.779C=0.221
The Genome Aggregation DatabaseAmericanSub834A=0.940C=0.060
The Genome Aggregation DatabaseEast AsianSub1594A=0.967C=0.033
The Genome Aggregation DatabaseEuropeSub18456A=0.951C=0.048
The Genome Aggregation DatabaseGlobalStudy-wide29898A=0.901C=0.098
The Genome Aggregation DatabaseOtherSub302A=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.872C=0.128
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.947C=0.053
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
rs98647640.000867alcohol dependence24277619

eQTL of rs9864764 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 rs9864764 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 )
chr3190738807190739052E06824220
chr3190713883190713933E071-654
chr3190713439190713660E074-927
chr3190713708190713791E074-796
chr3190722964190723068E0748377
chr3190723344190723645E0748757
chr3190723344190723645E0828757
chr3190723704190723906E0829117