SNP Detail Info-rs2066702

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.99307860G>A
GRCh37.p13 chr 4	NC_000004.11:g.100229017G>A
ADH1B RefSeqGene	NG_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 1	NM_000668.5:c.110...NM_000668.5:c.1108C>T	R [CGT]> C [TGT]	Coding Sequence Variant
alcohol dehydrogenase 1B isoform 1	NP_000659.2:p.Arg...NP_000659.2:p.Arg370Cys	R [Arg]> C [Cys]	Missense Variant
ADH1B transcript variant 2	NM_001286650.1:c....NM_001286650.1:c.988C>T	R [CGT]> C [TGT]	Coding Sequence Variant
alcohol dehydrogenase 1B isoform 2	NP_001273579.1:p....NP_001273579.1:p.Arg330Cys	R [Arg]> C [Cys]	Missense Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.809	A=0.191
1000Genomes	American	Sub	694	G=0.980	A=0.020
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=1.000	A=0.000
1000Genomes	Global	Study-wide	5008	G=0.947	A=0.053
1000Genomes	South Asian	Sub	978	G=1.000	A=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.999	A=0.001
The Exome Aggregation Consortium	American	Sub	21958	G=0.906	A=0.093
The Exome Aggregation Consortium	Asian	Sub	25154	G=0.999	A=0.001
The Exome Aggregation Consortium	Europe	Sub	73306	G=0.998	A=0.001
The Exome Aggregation Consortium	Global	Study-wide	121322	G=0.981	A=0.018
The Exome Aggregation Consortium	Other	Sub	904	G=0.990	A=0.010
The Genome Aggregation Database	African	Sub	8712	G=0.812	A=0.188
The Genome Aggregation Database	American	Sub	838	G=0.990	A=0.010
The Genome Aggregation Database	East Asian	Sub	1620	G=0.999	A=0.001
The Genome Aggregation Database	Europe	Sub	18488	G=0.998	A=0.001
The Genome Aggregation Database	Global	Study-wide	29960	G=0.944	A=0.055
The Genome Aggregation Database	Other	Sub	302	G=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.910	A=0.089
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=1.000	A=0.000

PMID	Title	Author	Journal
25045619	The Genetics, Neurogenetics and Pharmacogenetics of Addiction.	Demers CH	Curr Behav Neurosci Rep
12050823	A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity.	Osier MV	Am J Hum Genet
26068475	Natural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution.	Lyon KF	Nucleic Acids Res
21083667	Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations.	Liu J	Alcohol Clin Exp Res
18996923	Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.	Macgregor S	Hum Mol Genet
26091847	Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.	Wang L	BMC Genet
22675424	ADH1C Ile350Val polymorphism and cancer risk: evidence from 35 case-control studies.	Xue Y	PLoS One
21497796	Strong association of the alcohol dehydrogenase 1B gene (ADH1B) with alcohol dependence and alcohol-induced medical diseases.	Li D	Biol Psychiatry
24166409	Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.	Gelernter J	Mol Psychiatry
25828809	Which alcohol use disorder criteria contribute to the association of ADH1B with alcohol dependence?	Hart AB	Addict Biol
21635275	Association of alcohol dehydrogenase genes with alcohol-related phenotypes in a Native American community sample.	Gizer IR	Alcohol Clin Exp Res
25266489	Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.	Zhang J	BMC Genet
21592108	Diversification of the ADH1B gene during expansion of modern humans.	Li H	Ann Hum Genet
7035335	A search for the Indianapolis-variant of human alcohol dehydrogenase in liver autposy samples from North Germany and Japan.	Agarwal DP	Hum Genet
26849558	Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study.	Vu KN	PLoS One
26036284	Genomewide Association Study for Maximum Number of Alcoholic Drinks in European Americans and African Americans.	Xu K	Alcohol Clin Exp Res
27233804	Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.	Jin T	BMC Genet
19526455	ADH1A variation predisposes to personality traits and substance dependence.	Zuo L	Am J Med Genet B Neuropsychiatr Genet
6354175	Human liver alcohol dehydrogenase: ADH Indianapolis results from genetic polymorphism at the ADH2 gene locus.	Bosron WF	Biochem Genet
17185388	Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.	Luo X	Hum Mol Genet
16685648	Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.	Luo X	Am J Hum Genet
22560290	A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.	Celorrio D	Alcohol
19533172	Genetics of alcohol dependence.	Gelernter J	Hum Genet
25410943	The joint effects of ADH1B variants and childhood adversity on alcohol related phenotypes in African-American and European-American women and men.	Sartor CE	Alcohol Clin Exp Res
17718394	The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants.	Edenberg HJ	Alcohol Res Health
21303386	Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.	Celorrio D	Alcohol Clin Exp Res
7003596	New molecular forms of human liver alcohol dehydrogenase: isolation and characterization of ADHIndianapolis.	Bosron WF	Proc Natl Acad Sci U S A
18936436	Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.	Chang MH	Am J Epidemiol
15911586	Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci.	Hughes AL	Genetics
16571603	Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis.	Edenberg HJ	Hum Mol Genet
27294413	Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.	-	Hum Genomics
22048268	Combined effect of ADH1B RS1229984, RS2066702 and ADH1C RS1693482/ RS698 alleles on alcoholism and chronic liver diseases.	Toth R	Dis Markers
3619918	The human beta 3 alcohol dehydrogenase subunit differs from beta 1 by a Cys for Arg-369 substitution which decreases NAD(H) binding.	Burnell JC	Biochem Biophys Res Commun

SNP ID	p-value	Traits	Study
rs2066702	6.00E-17	alcohol dependence	24166409
rs2066702	2.00E-13	alcohol dependence	24166409
rs2066702	4.00E-11	alcohol dependence	24166409

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr4	100245602	100245886	E068	16585
chr4	100221669	100221897	E070	-7120
chr4	100244954	100245162	E073	15937
chr4	100245344	100245493	E073	16327
chr4	100221669	100221897	E082	-7120
chr4	100222048	100222444	E082	-6573

rs2066702

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs2066702 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs2066702 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)