rs16940688

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0004 (126/29972,GnomAD)
A=0000 (4/29118,TOPMED)
A=0015 (73/5008,1000G)
A=0001 (3/3854,ALSPAC)
A=0000 (0/3708,TWINSUK)
chr12:109922516 (GRCh38.p7) (12q24.11)
AD
GWASdb2
2   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.109922516G>A
GRCh37.p13 chr 12NC_000012.11:g.110360321G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=1.000A=0.000
1000GenomesAmericanSub694G=1.000A=0.000
1000GenomesEast AsianSub1008G=0.928A=0.072
1000GenomesEuropeSub1006G=1.000A=0.000
1000GenomesGlobalStudy-wide5008G=0.985A=0.015
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999A=0.001
The Genome Aggregation DatabaseAfricanSub8722G=1.000A=0.000
The Genome Aggregation DatabaseAmericanSub838G=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1620G=0.923A=0.077
The Genome Aggregation DatabaseEuropeSub18490G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29972G=0.995A=0.004
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.999A=0.000
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
PMID Title Author Journal
27181629Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus.Sakiyama MSci Rep
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
rs169406884.83E-08alcohol consumption (maxi-drinks)24277619

eQTL of rs16940688 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 rs16940688 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 )
chr12110310347110310397E067-49924
chr12110310407110310457E067-49864
chr12110312047110312114E067-48207
chr12110312462110312512E067-47809
chr12110312872110312992E067-47329
chr12110313227110313321E067-47000
chr12110313323110313775E067-46546
chr12110314195110314271E067-46050
chr12110314588110314638E067-45683
chr12110314691110314741E067-45580
chr12110339525110339575E067-20746
chr12110370723110371221E06710402
chr12110374725110375215E06714404
chr12110375247110375509E06714926
chr12110384359110384740E06724038
chr12110384816110384898E06724495
chr12110384984110385156E06724663
chr12110385205110385361E06724884
chr12110385394110385909E06725073
chr12110386003110386065E06725682
chr12110386088110387359E06725767
chr12110310347110310397E068-49924
chr12110310407110310457E068-49864
chr12110311844110311907E068-48414
chr12110312047110312114E068-48207
chr12110313227110313321E068-47000
chr12110313323110313775E068-46546
chr12110314195110314271E068-46050
chr12110314588110314638E068-45683
chr12110314691110314741E068-45580
chr12110367523110367794E0687202
chr12110374725110375215E06814404
chr12110375247110375509E06814926
chr12110382717110383304E06822396
chr12110384359110384740E06824038
chr12110384816110384898E06824495
chr12110384984110385156E06824663
chr12110385205110385361E06824884
chr12110385394110385909E06825073
chr12110386003110386065E06825682
chr12110386088110387359E06825767
chr12110390249110390569E06829928
chr12110390638110390711E06830317
chr12110310347110310397E069-49924
chr12110310407110310457E069-49864
chr12110311844110311907E069-48414
chr12110312047110312114E069-48207
chr12110312462110312512E069-47809
chr12110312872110312992E069-47329
chr12110313227110313321E069-47000
chr12110313323110313775E069-46546
chr12110314195110314271E069-46050
chr12110314588110314638E069-45683
chr12110314691110314741E069-45580
chr12110315026110315099E069-45222
chr12110327187110328082E069-32239
chr12110328177110328243E069-32078
chr12110328565110328824E069-31497
chr12110339525110339575E069-20746
chr12110339615110339748E069-20573
chr12110370723110371221E06910402
chr12110374725110375215E06914404
chr12110375247110375509E06914926
chr12110382717110383304E06922396
chr12110384359110384740E06924038
chr12110384816110384898E06924495
chr12110384984110385156E06924663
chr12110385205110385361E06924884
chr12110385394110385909E06925073
chr12110386003110386065E06925682
chr12110386088110387359E06925767
chr12110314588110314638E070-45683
chr12110314691110314741E070-45580
chr12110315026110315099E070-45222
chr12110325789110325871E070-34450
chr12110326940110326990E070-33331
chr12110327187110328082E070-32239
chr12110328177110328243E070-32078
chr12110328565110328824E070-31497
chr12110328896110329018E070-31303
chr12110310347110310397E071-49924
chr12110310407110310457E071-49864
chr12110311554110311796E071-48525
chr12110311844110311907E071-48414
chr12110312047110312114E071-48207
chr12110312462110312512E071-47809
chr12110312872110312992E071-47329
chr12110313227110313321E071-47000
chr12110313323110313775E071-46546
chr12110314195110314271E071-46050
chr12110314588110314638E071-45683
chr12110314691110314741E071-45580
chr12110327187110328082E071-32239
chr12110339525110339575E071-20746
chr12110339615110339748E071-20573
chr12110370259110370691E0719938
chr12110370723110371221E07110402
chr12110374725110375215E07114404
chr12110375247110375509E07114926
chr12110384359110384740E07124038
chr12110384816110384898E07124495
chr12110384984110385156E07124663
chr12110385205110385361E07124884
chr12110385394110385909E07125073
chr12110386003110386065E07125682
chr12110386088110387359E07125767
chr12110310347110310397E072-49924
chr12110310407110310457E072-49864
chr12110311554110311796E072-48525
chr12110311844110311907E072-48414
chr12110312047110312114E072-48207
chr12110313227110313321E072-47000
chr12110313323110313775E072-46546
chr12110339615110339748E072-20573
chr12110370723110371221E07210402
chr12110374725110375215E07214404
chr12110375247110375509E07214926
chr12110384359110384740E07224038
chr12110384816110384898E07224495
chr12110384984110385156E07224663
chr12110385205110385361E07224884
chr12110385394110385909E07225073
chr12110386003110386065E07225682
chr12110386088110387359E07225767
chr12110310347110310397E073-49924
chr12110311554110311796E073-48525
chr12110311844110311907E073-48414
chr12110312047110312114E073-48207
chr12110313227110313321E073-47000
chr12110313323110313775E073-46546
chr12110314195110314271E073-46050
chr12110314588110314638E073-45683
chr12110314691110314741E073-45580
chr12110315026110315099E073-45222
chr12110374725110375215E07314404
chr12110375247110375509E07314926
chr12110384359110384740E07324038
chr12110384816110384898E07324495
chr12110384984110385156E07324663
chr12110385205110385361E07324884
chr12110385394110385909E07325073
chr12110386003110386065E07325682
chr12110386088110387359E07325767
chr12110310347110310397E074-49924
chr12110310407110310457E074-49864
chr12110311554110311796E074-48525
chr12110311844110311907E074-48414
chr12110312047110312114E074-48207
chr12110312462110312512E074-47809
chr12110312872110312992E074-47329
chr12110313227110313321E074-47000
chr12110313323110313775E074-46546
chr12110314195110314271E074-46050
chr12110314588110314638E074-45683
chr12110314691110314741E074-45580
chr12110315026110315099E074-45222
chr12110339525110339575E074-20746
chr12110339615110339748E074-20573
chr12110369903110369953E0749582
chr12110370259110370691E0749938
chr12110370723110371221E07410402
chr12110374725110375215E07414404
chr12110375247110375509E07414926
chr12110382717110383304E07422396
chr12110384359110384740E07424038
chr12110384816110384898E07424495
chr12110384984110385156E07424663
chr12110385205110385361E07424884
chr12110385394110385909E07425073
chr12110386003110386065E07425682
chr12110386088110387359E07425767
chr12110315403110315965E081-44356
chr12110316228110316367E081-43954
chr12110326940110326990E081-33331
chr12110327187110328082E081-32239
chr12110328177110328243E081-32078
chr12110328565110328824E081-31497
chr12110328896110329018E081-31303
chr12110315403110315965E082-44356
chr12110316051110316131E082-44190
chr12110316228110316367E082-43954
chr12110316383110316501E082-43820
chr12110316502110316572E082-43749
chr12110327187110328082E082-32239
chr12110328177110328243E082-32078
chr12110328565110328824E082-31497










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12110316577110319636E067-40685
chr12110337667110339338E067-20983
chr12110316577110319636E068-40685
chr12110337667110339338E068-20983
chr12110316577110319636E069-40685
chr12110337667110339338E069-20983
chr12110316577110319636E070-40685
chr12110337667110339338E070-20983
chr12110316577110319636E071-40685
chr12110337667110339338E071-20983
chr12110316577110319636E072-40685
chr12110337667110339338E072-20983
chr12110316577110319636E073-40685
chr12110337667110339338E073-20983
chr12110316577110319636E074-40685
chr12110337667110339338E074-20983
chr12110316577110319636E081-40685
chr12110337667110339338E081-20983
chr12110316577110319636E082-40685
chr12110337667110339338E082-20983