rs823583

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
A==0168 (5040/29910,GnomAD)
A==0180 (5259/29118,TOPMED)
A==0135 (674/5008,1000G)
A==0133 (512/3854,ALSPAC)
A==0140 (518/3708,TWINSUK)
chr8:16979690 (GRCh38.p7) (8p22)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.16979690A>G
GRCh37.p13 chr 8NC_000008.10:g.16837199A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.240G=0.760
1000GenomesAmericanSub694A=0.090G=0.910
1000GenomesEast AsianSub1008A=0.078G=0.922
1000GenomesEuropeSub1006A=0.141G=0.859
1000GenomesGlobalStudy-wide5008A=0.135G=0.865
1000GenomesSouth AsianSub978A=0.070G=0.930
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.133G=0.867
The Genome Aggregation DatabaseAfricanSub8706A=0.233G=0.767
The Genome Aggregation DatabaseAmericanSub838A=0.090G=0.910
The Genome Aggregation DatabaseEast AsianSub1614A=0.099G=0.901
The Genome Aggregation DatabaseEuropeSub18452A=0.148G=0.851
The Genome Aggregation DatabaseGlobalStudy-wide29910A=0.168G=0.831
The Genome Aggregation DatabaseOtherSub300A=0.110G=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.180G=0.819
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.140G=0.860
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
rs8235830.000997alcohol dependence24277619

eQTL of rs823583 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 rs823583 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 )
chr81688335716883407E07246158
chr81688356616883721E07246367
chr81688356616883721E07346367
chr81685470716855098E07417508
chr81685510716855236E07417908
chr81688356616883721E07446367



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr81685815416860399E06720955
chr81688373516886285E06746536
chr81685815416860399E06820955
chr81687047816871142E06833279
chr81688373516886285E06846536
chr81685815416860399E06920955
chr81688373516886285E06946536
chr81685815416860399E07020955
chr81688373516886285E07046536
chr81685815416860399E07120955
chr81688373516886285E07146536
chr81685815416860399E07220955
chr81688373516886285E07246536
chr81685815416860399E07320955
chr81688373516886285E07346536
chr81685815416860399E07420955
chr81688373516886285E07446536
chr81688373516886285E08146536
chr81688373516886285E08246536