rs2066702

Homo sapiens
G>A
ADH1B : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0018 (2203/121322,ExAC)
A=0055 (1664/29960,GnomAD)
A=0089 (2614/29118,TOPMED)
A=0053 (266/5008,1000G)
A=0001 (2/3854,ALSPAC)
A=0000 (0/3708,TWINSUK)
chr4:99307860 (GRCh38.p7) (4q23)
AD
GWASCatalog
33   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99307860G>A
GRCh37.p13 chr 4NC_000004.11:g.100229017G>A
ADH1B RefSeqGeneNG_011435.1:g.18556C>T

Gene: ADH1B, alcohol dehydrogenase 1B (class I), beta polypeptide(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADH1B transcript variant 1NM_000668.5:c.110...NM_000668.5:c.1108C>TR [CGT]> C [TGT]Coding Sequence Variant
alcohol dehydrogenase 1B isoform 1NP_000659.2:p.Arg...NP_000659.2:p.Arg370CysR [Arg]> C [Cys]Missense Variant
ADH1B transcript variant 2NM_001286650.1:c....NM_001286650.1:c.988C>TR [CGT]> C [TGT]Coding Sequence Variant
alcohol dehydrogenase 1B isoform 2NP_001273579.1:p....NP_001273579.1:p.Arg330CysR [Arg]> C [Cys]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.809A=0.191
1000GenomesAmericanSub694G=0.980A=0.020
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=1.000A=0.000
1000GenomesGlobalStudy-wide5008G=0.947A=0.053
1000GenomesSouth AsianSub978G=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.999A=0.001
The Exome Aggregation ConsortiumAmericanSub21958G=0.906A=0.093
The Exome Aggregation ConsortiumAsianSub25154G=0.999A=0.001
The Exome Aggregation ConsortiumEuropeSub73306G=0.998A=0.001
The Exome Aggregation ConsortiumGlobalStudy-wide121322G=0.981A=0.018
The Exome Aggregation ConsortiumOtherSub904G=0.990A=0.010
The Genome Aggregation DatabaseAfricanSub8712G=0.812A=0.188
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1620G=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18488G=0.998A=0.001
The Genome Aggregation DatabaseGlobalStudy-wide29960G=0.944A=0.055
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.910A=0.089
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
PMID Title Author Journal
25045619The Genetics, Neurogenetics and Pharmacogenetics of Addiction.Demers CHCurr Behav Neurosci Rep
12050823A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity.Osier MVAm J Hum Genet
26068475Natural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution.Lyon KFNucleic Acids Res
21083667Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations.Liu JAlcohol Clin Exp Res
18996923Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.Macgregor SHum Mol Genet
26091847Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.Wang LBMC Genet
22675424ADH1C Ile350Val polymorphism and cancer risk: evidence from 35 case-control studies.Xue YPLoS One
21497796Strong association of the alcohol dehydrogenase 1B gene (ADH1B) with alcohol dependence and alcohol-induced medical diseases.Li DBiol Psychiatry
24166409Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.Gelernter JMol Psychiatry
25828809Which alcohol use disorder criteria contribute to the association of ADH1B with alcohol dependence?Hart ABAddict Biol
21635275Association of alcohol dehydrogenase genes with alcohol-related phenotypes in a Native American community sample.Gizer IRAlcohol Clin Exp Res
25266489Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.Zhang JBMC Genet
21592108Diversification of the ADH1B gene during expansion of modern humans.Li HAnn Hum Genet
7035335A search for the Indianapolis-variant of human alcohol dehydrogenase in liver autposy samples from North Germany and Japan.Agarwal DPHum Genet
26849558Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study.Vu KNPLoS One
26036284Genomewide Association Study for Maximum Number of Alcoholic Drinks in European Americans and African Americans.Xu KAlcohol Clin Exp Res
27233804Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.Jin TBMC Genet
19526455ADH1A variation predisposes to personality traits and substance dependence.Zuo LAm J Med Genet B Neuropsychiatr Genet
6354175Human liver alcohol dehydrogenase: ADH Indianapolis results from genetic polymorphism at the ADH2 gene locus.Bosron WFBiochem Genet
17185388Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.Luo XHum Mol Genet
16685648Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.Luo XAm J Hum Genet
22560290A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.Celorrio DAlcohol
19533172Genetics of alcohol dependence.Gelernter JHum Genet
25410943The joint effects of ADH1B variants and childhood adversity on alcohol related phenotypes in African-American and European-American women and men.Sartor CEAlcohol Clin Exp Res
17718394The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants.Edenberg HJAlcohol Res Health
21303386Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.Celorrio DAlcohol Clin Exp Res
7003596New molecular forms of human liver alcohol dehydrogenase: isolation and characterization of ADHIndianapolis.Bosron WFProc Natl Acad Sci U S A
18936436Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.Chang MHAm J Epidemiol
15911586Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci.Hughes ALGenetics
16571603Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis.Edenberg HJHum Mol Genet
27294413Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.-Hum Genomics
22048268Combined effect of ADH1B RS1229984, RS2066702 and ADH1C RS1693482/ RS698 alleles on alcoholism and chronic liver diseases.Toth RDis Markers
3619918The human beta 3 alcohol dehydrogenase subunit differs from beta 1 by a Cys for Arg-369 substitution which decreases NAD(H) binding.Burnell JCBiochem Biophys Res Commun

P-Value

SNP ID p-value Traits Study
rs20667026.00E-17alcohol dependence24166409
rs20667022.00E-13alcohol dependence24166409
rs20667024.00E-11alcohol dependence24166409

eQTL of rs2066702 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 rs2066702 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 )
chr4100245602100245886E06816585
chr4100221669100221897E070-7120
chr4100244954100245162E07315937
chr4100245344100245493E07316327
chr4100221669100221897E082-7120
chr4100222048100222444E082-6573