rs12080256

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0296 (8796/29700,GnomAD)
A=0360 (10493/29118,TOPMED)
A=0399 (1998/5008,1000G)
A=0210 (809/3854,ALSPAC)
A=0223 (828/3708,TWINSUK)
chr1:2319918 (GRCh38.p7) (1p36.32)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.2319918C>A
GRCh37.p13 chr 1NC_000001.10:g.2251357C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.468A=0.532
1000GenomesAmericanSub694C=0.740A=0.260
1000GenomesEast AsianSub1008C=0.599A=0.401
1000GenomesEuropeSub1006C=0.765A=0.235
1000GenomesGlobalStudy-wide5008C=0.601A=0.399
1000GenomesSouth AsianSub978C=0.510A=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.790A=0.210
The Genome Aggregation DatabaseAfricanSub8628C=0.512A=0.488
The Genome Aggregation DatabaseAmericanSub838C=0.740A=0.260
The Genome Aggregation DatabaseEast AsianSub1594C=0.597A=0.403
The Genome Aggregation DatabaseEuropeSub18338C=0.802A=0.197
The Genome Aggregation DatabaseGlobalStudy-wide29700C=0.703A=0.296
The Genome Aggregation DatabaseOtherSub302C=0.690A=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.639A=0.360
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.777A=0.223
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
rs120802560.000198alcohol consumption (maxi-drinks)24277619

eQTL of rs12080256 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 rs12080256 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 )
chr122015222201576E067-49781
chr122015942201662E067-49695
chr122017092202460E067-48897
chr122026472203176E067-48181
chr122033162203524E067-47833
chr122035332203680E067-47677
chr122038322204147E067-47210
chr122041992204358E067-46999
chr122044102204460E067-46897
chr122045312204581E067-46776
chr122046772204853E067-46504
chr122050172205061E067-46296
chr122054272205499E067-45858
chr122056102205833E067-45524
chr122058652205962E067-45395
chr122060052206162E067-45195
chr122062632206379E067-44978
chr122064422206565E067-44792
chr122066702206796E067-44561
chr122072662207971E067-43386
chr122079762208112E067-43245
chr122092772209376E067-41981
chr122095662209823E067-41534
chr122098542210030E067-41327
chr122102172211564E067-39793
chr122115662211663E067-39694
chr122198642220163E067-31194
chr122202682220334E067-31023
chr122204792220542E067-30815
chr122206282220834E067-30523
chr122211192221343E067-30014
chr122214062221456E067-29901
chr122234862223537E067-27820
chr122235442223601E067-27756
chr122239592224016E067-27341
chr122240642224132E067-27225
chr122241972224515E067-26842
chr122256112225793E067-25564
chr122259272226169E067-25188
chr122299522230043E067-21314
chr122301102230215E067-21142
chr122303002230372E067-20985
chr122304042233096E067-18261
chr122331172233729E067-17628
chr122338472233970E067-17387
chr122340142234064E067-17293
chr122341162234360E067-16997
chr122360882236152E067-15205
chr122427982243602E067-7755
chr122436212247524E067-3833
chr122530932253224E0671736
chr122532622253389E0671905
chr122534552254782E0672098
chr122015222201576E068-49781
chr122015942201662E068-49695
chr122017092202460E068-48897
chr122026472203176E068-48181
chr122033162203524E068-47833
chr122035332203680E068-47677
chr122038322204147E068-47210
chr122041992204358E068-46999
chr122044102204460E068-46897
chr122045312204581E068-46776
chr122046772204853E068-46504
chr122050172205061E068-46296
chr122054272205499E068-45858
chr122056102205833E068-45524
chr122058652205962E068-45395
chr122060052206162E068-45195
chr122062632206379E068-44978
chr122064422206565E068-44792
chr122066702206796E068-44561
chr122072662207971E068-43386
chr122079762208112E068-43245
chr122081582208369E068-42988
chr122092772209376E068-41981
chr122095662209823E068-41534
chr122098542210030E068-41327
chr122102172211564E068-39793
chr122115662211663E068-39694
chr122178292217920E068-33437
chr122179952218064E068-33293
chr122180882218142E068-33215
chr122182862218412E068-32945
chr122198642220163E068-31194
chr122202682220334E068-31023
chr122204792220542E068-30815
chr122206282220834E068-30523
chr122211192221343E068-30014
chr122234862223537E068-27820
chr122235442223601E068-27756
chr122239592224016E068-27341
chr122240642224132E068-27225
chr122241972224515E068-26842
chr122246552224788E068-26569
chr122248022224878E068-26479
chr122256112225793E068-25564
chr122259272226169E068-25188
chr122266502226853E068-24504
chr122270922227150E068-24207
chr122272472227389E068-23968
chr122295542229608E068-21749
chr122296262229676E068-21681
chr122297612229917E068-21440
chr122299522230043E068-21314
chr122301102230215E068-21142
chr122303002230372E068-20985
chr122304042233096E068-18261
chr122331172233729E068-17628
chr122338472233970E068-17387
chr122340142234064E068-17293
chr122341162234360E068-16997
chr122360882236152E068-15205
chr122362612237272E068-14085
chr122427982243602E068-7755
chr122436212247524E068-3833
chr122475452247627E068-3730
chr122522262252293E068869
chr122523772253055E0681020
chr122530932253224E0681736
chr122532622253389E0681905
chr122534552254782E0682098
chr122015222201576E069-49781
chr122015942201662E069-49695
chr122017092202460E069-48897
chr122026472203176E069-48181
chr122033162203524E069-47833
chr122035332203680E069-47677
chr122038322204147E069-47210
chr122041992204358E069-46999
chr122054272205499E069-45858
chr122056102205833E069-45524
chr122058652205962E069-45395
chr122060052206162E069-45195
chr122062632206379E069-44978
chr122064422206565E069-44792
chr122066702206796E069-44561
chr122072662207971E069-43386
chr122079762208112E069-43245
chr122081582208369E069-42988
chr122083882208451E069-42906
chr122087552208893E069-42464
chr122092772209376E069-41981
chr122095662209823E069-41534
chr122098542210030E069-41327
chr122102172211564E069-39793
chr122198642220163E069-31194
chr122202682220334E069-31023
chr122204792220542E069-30815
chr122206282220834E069-30523
chr122211192221343E069-30014
chr122214062221456E069-29901
chr122234862223537E069-27820
chr122235442223601E069-27756
chr122239592224016E069-27341
chr122240642224132E069-27225
chr122241972224515E069-26842
chr122246552224788E069-26569
chr122248022224878E069-26479
chr122256112225793E069-25564
chr122259272226169E069-25188
chr122266502226853E069-24504
chr122270922227150E069-24207
chr122272472227389E069-23968
chr122274322227486E069-23871
chr122278232227967E069-23390
chr122279902228378E069-22979
chr122297612229917E069-21440
chr122299522230043E069-21314
chr122301102230215E069-21142
chr122303002230372E069-20985
chr122304042233096E069-18261
chr122331172233729E069-17628
chr122338472233970E069-17387
chr122340142234064E069-17293
chr122341162234360E069-16997
chr122349712235053E069-16304
chr122350732235147E069-16210
chr122354152235489E069-15868
chr122356152235665E069-15692
chr122356902235734E069-15623
chr122360882236152E069-15205
chr122415532241630E069-9727
chr122418602242158E069-9199
chr122427982243602E069-7755
chr122436212247524E069-3833
chr122523772253055E0691020
chr122530932253224E0691736
chr122532622253389E0691905
chr122534552254782E0692098
chr122015222201576E070-49781
chr122015942201662E070-49695
chr122041992204358E070-46999
chr122044102204460E070-46897
chr122045312204581E070-46776
chr122046772204853E070-46504
chr122050172205061E070-46296
chr122054272205499E070-45858
chr122056102205833E070-45524
chr122058652205962E070-45395
chr122060052206162E070-45195
chr122062632206379E070-44978
chr122064422206565E070-44792
chr122079762208112E070-43245
chr122081582208369E070-42988
chr122083882208451E070-42906
chr122092772209376E070-41981
chr122095662209823E070-41534
chr122098542210030E070-41327
chr122158032215906E070-35451
chr122160152216062E070-35295
chr122162812216331E070-35026
chr122165652216639E070-34718
chr122178292217920E070-33437
chr122179952218064E070-33293
chr122180882218142E070-33215
chr122182862218412E070-32945
chr122202682220334E070-31023
chr122204792220542E070-30815
chr122206282220834E070-30523
chr122211192221343E070-30014
chr122214062221456E070-29901
chr122234862223537E070-27820
chr122235442223601E070-27756
chr122239592224016E070-27341
chr122240642224132E070-27225
chr122241972224515E070-26842
chr122246552224788E070-26569
chr122248022224878E070-26479
chr122256112225793E070-25564
chr122259272226169E070-25188
chr122266502226853E070-24504
chr122270922227150E070-24207
chr122360882236152E070-15205
chr122427982243602E070-7755
chr122436212247524E070-3833
chr122475452247627E070-3730
chr122476612247721E070-3636
chr122478312248049E070-3308
chr122523772253055E0701020
chr122530932253224E0701736
chr122532622253389E0701905
chr122609412261024E0709584
chr122613772261431E07010020
chr122615582261667E07010201
chr122617012261777E07010344
chr122620222262208E07010665
chr122622702262632E07010913
chr122626802262823E07011323
chr122629222263002E07011565
chr122672932267413E07015936
chr122674342267492E07016077
chr122676052267782E07016248
chr122799782280109E07028621
chr122801882280282E07028831
chr122808222280978E07029465
chr122812472281365E07029890
chr122814692281711E07030112
chr122015222201576E071-49781
chr122015942201662E071-49695
chr122017092202460E071-48897
chr122026472203176E071-48181
chr122033162203524E071-47833
chr122035332203680E071-47677
chr122038322204147E071-47210
chr122041992204358E071-46999
chr122044102204460E071-46897
chr122045312204581E071-46776
chr122046772204853E071-46504
chr122050172205061E071-46296
chr122054272205499E071-45858
chr122056102205833E071-45524
chr122058652205962E071-45395
chr122060052206162E071-45195
chr122072662207971E071-43386
chr122079762208112E071-43245
chr122081582208369E071-42988
chr122083882208451E071-42906
chr122092772209376E071-41981
chr122095662209823E071-41534
chr122098542210030E071-41327
chr122102172211564E071-39793
chr122115662211663E071-39694
chr122198642220163E071-31194
chr122202682220334E071-31023
chr122204792220542E071-30815
chr122206282220834E071-30523
chr122211192221343E071-30014
chr122214062221456E071-29901
chr122234862223537E071-27820
chr122235442223601E071-27756
chr122239592224016E071-27341
chr122240642224132E071-27225
chr122241972224515E071-26842
chr122246552224788E071-26569
chr122248022224878E071-26479
chr122256112225793E071-25564
chr122259272226169E071-25188
chr122279902228378E071-22979
chr122284992228613E071-22744
chr122292702229320E071-22037
chr122295542229608E071-21749
chr122296262229676E071-21681
chr122297612229917E071-21440
chr122299522230043E071-21314
chr122301102230215E071-21142
chr122303002230372E071-20985
chr122304042233096E071-18261
chr122331172233729E071-17628
chr122338472233970E071-17387
chr122340142234064E071-17293
chr122341162234360E071-16997
chr122349712235053E071-16304
chr122360882236152E071-15205
chr122415532241630E071-9727
chr122418602242158E071-9199
chr122425122242755E071-8602
chr122427982243602E071-7755
chr122436212247524E071-3833
chr122492532249345E071-2012
chr122498942250065E071-1292
chr122522262252293E071869
chr122523772253055E0711020
chr122530932253224E0711736
chr122532622253389E0711905
chr122534552254782E0712098
chr122615582261667E07110201
chr122617012261777E07110344
chr122620222262208E07110665
chr122622702262632E07110913
chr122626802262823E07111323
chr122015222201576E072-49781
chr122015942201662E072-49695
chr122017092202460E072-48897
chr122026472203176E072-48181
chr122033162203524E072-47833
chr122035332203680E072-47677
chr122038322204147E072-47210
chr122041992204358E072-46999
chr122044102204460E072-46897
chr122045312204581E072-46776
chr122046772204853E072-46504
chr122050172205061E072-46296
chr122054272205499E072-45858
chr122056102205833E072-45524
chr122058652205962E072-45395
chr122060052206162E072-45195
chr122062632206379E072-44978
chr122064422206565E072-44792
chr122066702206796E072-44561
chr122072662207971E072-43386
chr122079762208112E072-43245
chr122092772209376E072-41981
chr122095662209823E072-41534
chr122098542210030E072-41327
chr122102172211564E072-39793
chr122198642220163E072-31194
chr122202682220334E072-31023
chr122204792220542E072-30815
chr122206282220834E072-30523
chr122211192221343E072-30014
chr122214062221456E072-29901
chr122234862223537E072-27820
chr122235442223601E072-27756
chr122239592224016E072-27341
chr122240642224132E072-27225
chr122241972224515E072-26842
chr122246552224788E072-26569
chr122248022224878E072-26479
chr122256112225793E072-25564
chr122259272226169E072-25188
chr122266502226853E072-24504
chr122270922227150E072-24207
chr122272472227389E072-23968
chr122297612229917E072-21440
chr122299522230043E072-21314
chr122301102230215E072-21142
chr122303002230372E072-20985
chr122304042233096E072-18261
chr122331172233729E072-17628
chr122338472233970E072-17387
chr122340142234064E072-17293
chr122341162234360E072-16997
chr122349712235053E072-16304
chr122350732235147E072-16210
chr122354152235489E072-15868
chr122356152235665E072-15692
chr122356902235734E072-15623
chr122360882236152E072-15205
chr122418602242158E072-9199
chr122422042242293E072-9064
chr122423352242421E072-8936
chr122425122242755E072-8602
chr122427982243602E072-7755
chr122436212247524E072-3833
chr122523772253055E0721020
chr122530932253224E0721736
chr122532622253389E0721905
chr122534552254782E0722098
chr122015222201576E073-49781
chr122015942201662E073-49695
chr122017092202460E073-48897
chr122026472203176E073-48181
chr122033162203524E073-47833
chr122035332203680E073-47677
chr122038322204147E073-47210
chr122041992204358E073-46999
chr122044102204460E073-46897
chr122045312204581E073-46776
chr122046772204853E073-46504
chr122050172205061E073-46296
chr122054272205499E073-45858
chr122056102205833E073-45524
chr122058652205962E073-45395
chr122060052206162E073-45195
chr122062632206379E073-44978
chr122072662207971E073-43386
chr122079762208112E073-43245
chr122081582208369E073-42988
chr122083882208451E073-42906
chr122087552208893E073-42464
chr122092772209376E073-41981
chr122095662209823E073-41534
chr122098542210030E073-41327
chr122102172211564E073-39793
chr122146902214772E073-36585
chr122153002215345E073-36012
chr122155322215590E073-35767
chr122158032215906E073-35451
chr122160152216062E073-35295
chr122162812216331E073-35026
chr122165652216639E073-34718
chr122179952218064E073-33293
chr122180882218142E073-33215
chr122182862218412E073-32945
chr122186372218687E073-32670
chr122198642220163E073-31194
chr122202682220334E073-31023
chr122204792220542E073-30815
chr122206282220834E073-30523
chr122211192221343E073-30014
chr122234862223537E073-27820
chr122235442223601E073-27756
chr122239592224016E073-27341
chr122240642224132E073-27225
chr122241972224515E073-26842
chr122246552224788E073-26569
chr122248022224878E073-26479
chr122256112225793E073-25564
chr122259272226169E073-25188
chr122266502226853E073-24504
chr122270922227150E073-24207
chr122272472227389E073-23968
chr122274322227486E073-23871
chr122278232227967E073-23390
chr122279902228378E073-22979
chr122284992228613E073-22744
chr122286742228745E073-22612
chr122297612229917E073-21440
chr122299522230043E073-21314
chr122301102230215E073-21142
chr122303002230372E073-20985
chr122304042233096E073-18261
chr122331172233729E073-17628
chr122338472233970E073-17387
chr122340142234064E073-17293
chr122341162234360E073-16997
chr122349712235053E073-16304
chr122350732235147E073-16210
chr122354152235489E073-15868
chr122356152235665E073-15692
chr122356902235734E073-15623
chr122360882236152E073-15205
chr122362612237272E073-14085
chr122375172237573E073-13784
chr122379642238073E073-13284
chr122380742238400E073-12957
chr122425122242755E073-8602
chr122427982243602E073-7755
chr122436212247524E073-3833
chr122475452247627E073-3730
chr122476612247721E073-3636
chr122490532249232E073-2125
chr122492532249345E073-2012
chr122495032249553E073-1804
chr122496512249755E073-1602
chr122523772253055E0731020
chr122530932253224E0731736
chr122532622253389E0731905
chr122615582261667E07310201
chr122617012261777E07310344
chr122620222262208E07310665
chr122622702262632E07310913
chr122626802262823E07311323
chr122015222201576E074-49781
chr122015942201662E074-49695
chr122017092202460E074-48897
chr122026472203176E074-48181
chr122033162203524E074-47833
chr122035332203680E074-47677
chr122038322204147E074-47210
chr122041992204358E074-46999
chr122044102204460E074-46897
chr122045312204581E074-46776
chr122046772204853E074-46504
chr122050172205061E074-46296
chr122054272205499E074-45858
chr122056102205833E074-45524
chr122058652205962E074-45395
chr122060052206162E074-45195
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