rs2693818

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0189 (5681/29942,GnomAD)
T=0202 (5899/29116,TOPMED)
T=0287 (1437/5008,1000G)
T=0068 (261/3854,ALSPAC)
T=0063 (234/3708,TWINSUK)
chr2:6064376 (GRCh38.p7) (2p25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
146 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.6064376C>T
GRCh37.p13 chr 2NC_000002.11:g.6204508C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.639T=0.361
1000GenomesAmericanSub694C=0.770T=0.230
1000GenomesEast AsianSub1008C=0.577T=0.423
1000GenomesEuropeSub1006C=0.905T=0.095
1000GenomesGlobalStudy-wide5008C=0.713T=0.287
1000GenomesSouth AsianSub978C=0.710T=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.932T=0.068
The Genome Aggregation DatabaseAfricanSub8702C=0.658T=0.342
The Genome Aggregation DatabaseAmericanSub838C=0.830T=0.170
The Genome Aggregation DatabaseEast AsianSub1606C=0.573T=0.427
The Genome Aggregation DatabaseEuropeSub18494C=0.900T=0.099
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.810T=0.189
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.797T=0.202
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.937T=0.063
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
rs26938180.000587alcohol consumption (maxi-drinks)24277619

eQTL of rs2693818 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 rs2693818 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 )
chr262130456213136E0688537
chr262132386213382E0688730
chr262147866214867E06810278
chr262229006223167E06818392
chr262233186223673E06818810
chr262130456213136E0698537
chr262132386213382E0698730
chr262143126214399E0699804
chr262144626214733E0699954
chr262225526222759E06918044
chr262229006223167E06918392
chr261649266165362E070-39146
chr261654056165531E070-38977
chr261656686165727E070-38781
chr261697096169780E070-34728
chr261926526192756E070-11752
chr261928686193048E070-11460
chr261935846193663E070-10845
chr261937816193849E070-10659
chr261939896194103E070-10405
chr261942086194785E070-9723
chr261947906195191E070-9317
chr261953376195387E070-9121
chr261958136195962E070-8546
chr262000216200190E070-4318
chr262002826200381E070-4127
chr262007546200967E070-3541
chr262012036201290E070-3218
chr262015376201639E070-2869
chr262020016202112E070-2396
chr262024516202600E070-1908
chr262083296208419E0703821
chr262084356208507E0703927
chr262085626208885E0704054
chr262090316209111E0704523
chr262092176209353E0704709
chr262095376209788E0705029
chr262098156209973E0705307
chr262101506210262E0705642
chr262105256210608E0706017
chr262116476212078E0707139
chr262122356212356E0707727
chr262123976212768E0707889
chr262130456213136E0708537
chr262132386213382E0708730
chr262147866214867E07010278
chr262150876215215E07010579
chr262155336215590E07011025
chr262165006216577E07011992
chr262168386216949E07012330
chr262171486217249E07012640
chr262175736218043E07013065
chr262180506218478E07013542
chr262185606218622E07014052
chr262186916218789E07014183
chr262192416219381E07014733
chr262195096219595E07015001
chr262225526222759E07018044
chr262229006223167E07018392
chr262233186223673E07018810
chr262519246252445E07047416
chr262130456213136E0718537
chr262132386213382E0718730
chr262144626214733E0719954
chr262123976212768E0727889
chr262130456213136E0728537
chr262132386213382E0728730
chr262144626214733E0729954
chr262233186223673E07218810
chr262539766254316E07249468
chr262130456213136E0748537
chr262132386213382E0748730
chr262144626214733E0749954
chr262225526222759E07418044
chr262229006223167E07418392
chr261649266165362E081-39146
chr261654056165531E081-38977
chr261926526192756E081-11752
chr261928686193048E081-11460
chr261935846193663E081-10845
chr261937816193849E081-10659
chr261939896194103E081-10405
chr261942086194785E081-9723
chr261947906195191E081-9317
chr261953376195387E081-9121
chr261956216195699E081-8809
chr261958136195962E081-8546
chr261960556196162E081-8346
chr261963466196431E081-8077
chr261966346196755E081-7753
chr261967906197038E081-7470
chr262047486204834E081240
chr262049396205309E081431
chr262054386205530E081930
chr262095376209788E0815029
chr262098156209973E0815307
chr262101506210262E0815642
chr262116476212078E0817139
chr262122356212356E0817727
chr262123976212768E0817889
chr262130456213136E0818537
chr262132386213382E0818730
chr262133866214238E0818878
chr262143126214399E0819804
chr262144626214733E0819954
chr262147866214867E08110278
chr262150876215215E08110579
chr262185606218622E08114052
chr262186916218789E08114183
chr262192416219381E08114733
chr262195096219595E08115001
chr262196856219882E08115177
chr262225526222759E08118044
chr262229006223167E08118392
chr262233186223673E08118810
chr262519246252445E08147416
chr262528076252967E08148299
chr261649266165362E082-39146
chr261654056165531E082-38977
chr261656686165727E082-38781
chr261937816193849E082-10659
chr261939896194103E082-10405
chr261947906195191E082-9317
chr261953376195387E082-9121
chr261967906197038E082-7470
chr262047486204834E082240
chr262049396205309E082431
chr262083296208419E0823821
chr262095376209788E0825029
chr262098156209973E0825307
chr262101506210262E0825642
chr262105256210608E0826017
chr262116476212078E0827139
chr262122356212356E0827727
chr262123976212768E0827889
chr262147866214867E08210278
chr262150876215215E08210579
chr262155336215590E08211025
chr262165006216577E08211992
chr262192416219381E08214733
chr262195096219595E08215001
chr262225526222759E08218044
chr262229006223167E08218392
chr262233186223673E08218810
chr262519246252445E08247416
chr262528076252967E08248299








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr262211356221921E06716627
chr262211356221921E06816627
chr262211356221921E06916627
chr262211356221921E07016627
chr262211356221921E07116627
chr262211356221921E07216627
chr262211356221921E07316627
chr262211356221921E07416627
chr262211356221921E08216627