rs2693871

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0438 (13110/29904,GnomAD)
G=0477 (13904/29116,TOPMED)
G=0464 (2322/5008,1000G)
G=0325 (1251/3854,ALSPAC)
G=0327 (1213/3708,TWINSUK)
chr2:6093997 (GRCh38.p7) (2p25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
137 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.6093997A>G
GRCh37.p13 chr 2NC_000002.11:g.6234129A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.240G=0.760
1000GenomesAmericanSub694A=0.510G=0.490
1000GenomesEast AsianSub1008A=0.750G=0.250
1000GenomesEuropeSub1006A=0.679G=0.321
1000GenomesGlobalStudy-wide5008A=0.536G=0.464
1000GenomesSouth AsianSub978A=0.590G=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.675G=0.325
The Genome Aggregation DatabaseAfricanSub8712A=0.320G=0.680
The Genome Aggregation DatabaseAmericanSub834A=0.570G=0.430
The Genome Aggregation DatabaseEast AsianSub1618A=0.745G=0.255
The Genome Aggregation DatabaseEuropeSub18438A=0.657G=0.342
The Genome Aggregation DatabaseGlobalStudy-wide29904A=0.561G=0.438
The Genome Aggregation DatabaseOtherSub302A=0.660G=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.522G=0.477
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.673G=0.327
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
rs26938710.000622alcohol consumption (maxi-drinks)24277619

eQTL of rs2693871 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 rs2693871 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 )
chr262130456213136E068-20993
chr262132386213382E068-20747
chr262147866214867E068-19262
chr262229006223167E068-10962
chr262233186223673E068-10456
chr262130456213136E069-20993
chr262132386213382E069-20747
chr262143126214399E069-19730
chr262144626214733E069-19396
chr262225526222759E069-11370
chr262229006223167E069-10962
chr261926526192756E070-41373
chr261928686193048E070-41081
chr261935846193663E070-40466
chr261937816193849E070-40280
chr261939896194103E070-40026
chr261942086194785E070-39344
chr261947906195191E070-38938
chr261953376195387E070-38742
chr261958136195962E070-38167
chr262000216200190E070-33939
chr262002826200381E070-33748
chr262007546200967E070-33162
chr262012036201290E070-32839
chr262015376201639E070-32490
chr262020016202112E070-32017
chr262024516202600E070-31529
chr262083296208419E070-25710
chr262084356208507E070-25622
chr262085626208885E070-25244
chr262090316209111E070-25018
chr262092176209353E070-24776
chr262095376209788E070-24341
chr262098156209973E070-24156
chr262101506210262E070-23867
chr262105256210608E070-23521
chr262116476212078E070-22051
chr262122356212356E070-21773
chr262123976212768E070-21361
chr262130456213136E070-20993
chr262132386213382E070-20747
chr262147866214867E070-19262
chr262150876215215E070-18914
chr262155336215590E070-18539
chr262165006216577E070-17552
chr262168386216949E070-17180
chr262171486217249E070-16880
chr262175736218043E070-16086
chr262180506218478E070-15651
chr262185606218622E070-15507
chr262186916218789E070-15340
chr262192416219381E070-14748
chr262195096219595E070-14534
chr262225526222759E070-11370
chr262229006223167E070-10962
chr262233186223673E070-10456
chr262519246252445E07017795
chr262130456213136E071-20993
chr262132386213382E071-20747
chr262144626214733E071-19396
chr262123976212768E072-21361
chr262130456213136E072-20993
chr262132386213382E072-20747
chr262144626214733E072-19396
chr262233186223673E072-10456
chr262539766254316E07219847
chr262130456213136E074-20993
chr262132386213382E074-20747
chr262144626214733E074-19396
chr262225526222759E074-11370
chr262229006223167E074-10962
chr261926526192756E081-41373
chr261928686193048E081-41081
chr261935846193663E081-40466
chr261937816193849E081-40280
chr261939896194103E081-40026
chr261942086194785E081-39344
chr261947906195191E081-38938
chr261953376195387E081-38742
chr261956216195699E081-38430
chr261958136195962E081-38167
chr261960556196162E081-37967
chr261963466196431E081-37698
chr261966346196755E081-37374
chr261967906197038E081-37091
chr262047486204834E081-29295
chr262049396205309E081-28820
chr262054386205530E081-28599
chr262095376209788E081-24341
chr262098156209973E081-24156
chr262101506210262E081-23867
chr262116476212078E081-22051
chr262122356212356E081-21773
chr262123976212768E081-21361
chr262130456213136E081-20993
chr262132386213382E081-20747
chr262133866214238E081-19891
chr262143126214399E081-19730
chr262144626214733E081-19396
chr262147866214867E081-19262
chr262150876215215E081-18914
chr262185606218622E081-15507
chr262186916218789E081-15340
chr262192416219381E081-14748
chr262195096219595E081-14534
chr262196856219882E081-14247
chr262225526222759E081-11370
chr262229006223167E081-10962
chr262233186223673E081-10456
chr262519246252445E08117795
chr262528076252967E08118678
chr261937816193849E082-40280
chr261939896194103E082-40026
chr261947906195191E082-38938
chr261953376195387E082-38742
chr261967906197038E082-37091
chr262047486204834E082-29295
chr262049396205309E082-28820
chr262083296208419E082-25710
chr262095376209788E082-24341
chr262098156209973E082-24156
chr262101506210262E082-23867
chr262105256210608E082-23521
chr262116476212078E082-22051
chr262122356212356E082-21773
chr262123976212768E082-21361
chr262147866214867E082-19262
chr262150876215215E082-18914
chr262155336215590E082-18539
chr262165006216577E082-17552
chr262192416219381E082-14748
chr262195096219595E082-14534
chr262225526222759E082-11370
chr262229006223167E082-10962
chr262233186223673E082-10456
chr262519246252445E08217795
chr262528076252967E08218678








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr262211356221921E067-12208
chr262211356221921E068-12208
chr262211356221921E069-12208
chr262211356221921E070-12208
chr262211356221921E071-12208
chr262211356221921E072-12208
chr262211356221921E073-12208
chr262211356221921E074-12208
chr262211356221921E082-12208