rs309853

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0324 (9717/29924,GnomAD)
G=0348 (10153/29118,TOPMED)
G=0323 (1620/5008,1000G)
G=0248 (957/3854,ALSPAC)
G=0257 (952/3708,TWINSUK)
chr8:30016087 (GRCh38.p7) (8p12)
AD
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.30016087A>G
GRCh37.p13 chr 8NC_000008.10:g.29873603A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.477G=0.523
1000GenomesAmericanSub694A=0.730G=0.270
1000GenomesEast AsianSub1008A=0.684G=0.316
1000GenomesEuropeSub1006A=0.727G=0.273
1000GenomesGlobalStudy-wide5008A=0.677G=0.323
1000GenomesSouth AsianSub978A=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.752G=0.248
The Genome Aggregation DatabaseAfricanSub8700A=0.531G=0.469
The Genome Aggregation DatabaseAmericanSub838A=0.790G=0.210
The Genome Aggregation DatabaseEast AsianSub1612A=0.627G=0.373
The Genome Aggregation DatabaseEuropeSub18472A=0.741G=0.259
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.675G=0.324
The Genome Aggregation DatabaseOtherSub302A=0.740G=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.651G=0.348
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.743G=0.257
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
rs3098530.000376alcohol dependence24277619

eQTL of rs309853 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 rs309853 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 )
chr82983415629834206E068-39397
chr82983428329834638E068-38965
chr82985789329858072E068-15531
chr82985810729858648E068-14955
chr82985810729858648E070-14955
chr82985874529858860E070-14743
chr82985896129859011E070-14592
chr82987809829878152E0704495
chr82987834629878509E0704743
chr82986977629869849E071-3754
chr82986987829870269E071-3334
chr82984584129845894E081-27709
chr82984673929847042E081-26561
chr82984704429847187E081-26416
chr82984768229847742E081-25861
chr82984775129848026E081-25577
chr82984814329849150E081-24453
chr82985789329858072E081-15531
chr82985810729858648E081-14955
chr82985874529858860E081-14743
chr82985896129859011E081-14592
chr82986897129869044E081-4559
chr82986910129869378E081-4225
chr82986940529869476E081-4127
chr82986977629869849E081-3754
chr82986987829870269E081-3334
chr82987045829870508E081-3095
chr82987683329876883E0813230
chr82987690629876997E0813303
chr82987722229878067E0813619
chr82987809829878152E0814495
chr82987834629878509E0814743
chr82984656829846688E082-26915
chr82984673929847042E082-26561
chr82984775129848026E082-25577
chr82984814329849150E082-24453
chr82985810729858648E082-14955
chr82985874529858860E082-14743
chr82986004629860148E082-13455
chr82986940529869476E082-4127
chr82986977629869849E082-3754
chr82986987829870269E082-3334
chr82987144629872040E082-1563
chr82987722229878067E0823619
chr82987809829878152E0824495
chr82987884729878923E0825244