rs1229984

Homo sapiens
T>C
ADH1B : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0093 (11366/121402,ExAC)
T==0062 (1883/29970,GnomAD)
T==0043 (1266/29118,TOPMED)
T==0159 (794/5008,1000G)
T==0031 (118/3854,ALSPAC)
T==0034 (125/3708,TWINSUK)
chr4:99318162 (GRCh38.p7) (4q23)
AD
GWASCatalog | GWASdb2
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99318162T>C
GRCh37.p13 chr 4NC_000004.11:g.100239319T>C
ADH1B RefSeqGeneNG_011435.1:g.8254A>G

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.143A>GH [CAC]> R [CGC]Coding Sequence Variant
alcohol dehydrogenase 1B isoform 1NP_000659.2:p.His...NP_000659.2:p.His48ArgH [His]> R [Arg]Missense Variant
ADH1B transcript variant 2NM_001286650.1:c....NM_001286650.1:c.23A>GH [CAC]> R [CGC]Coding Sequence Variant
alcohol dehydrogenase 1B isoform 2NP_001273579.1:p....NP_001273579.1:p.His8ArgH [His]> R [Arg]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.002C=0.998
1000GenomesAmericanSub694T=0.060C=0.940
1000GenomesEast AsianSub1008T=0.697C=0.303
1000GenomesEuropeSub1006T=0.029C=0.971
1000GenomesGlobalStudy-wide5008T=0.159C=0.841
1000GenomesSouth AsianSub978T=0.020C=0.980
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.031C=0.969
The Exome Aggregation ConsortiumAmericanSub21984T=0.037C=0.963
The Exome Aggregation ConsortiumAsianSub25158T=0.282C=0.718
The Exome Aggregation ConsortiumEuropeSub73352T=0.045C=0.954
The Exome Aggregation ConsortiumGlobalStudy-wide121402T=0.093C=0.906
The Exome Aggregation ConsortiumOtherSub908T=0.110C=0.890
The Genome Aggregation DatabaseAfricanSub8716T=0.012C=0.988
The Genome Aggregation DatabaseAmericanSub838T=0.060C=0.940
The Genome Aggregation DatabaseEast AsianSub1616T=0.721C=0.279
The Genome Aggregation DatabaseEuropeSub18498T=0.026C=0.973
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.062C=0.937
The Genome Aggregation DatabaseOtherSub302T=0.240C=0.760
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.043C=0.956
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.034C=0.966
PMID Title Author Journal
16685648Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.Luo XAm J Hum Genet
10090900Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism.Osier MAm J Hum Genet
18500343Multiple ADH genes are associated with upper aerodigestive cancers.Hashibe MNat Genet
16255080A haplotype map of the human genome.-Nature
24093763Genetic variant of single-nucleotide polymorphism is associated with risk of esophageal squamous cell carcinoma.Ye BGenet Test Mol Biomarkers
25433705Increased alcohol consumption as a cause of alcoholism, without similar evidence for depression: a Mendelian randomization study.Wium-Andersen MKInt J Epidemiol
25192829Testing for non-linear causal effects using a binary genotype in a Mendelian randomization study: application to alcohol and cardiovascular traits.Silverwood RJInt J Epidemiol
19193628ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.Birley AJHum Mol Genet
21351086Shortened telomeres in individuals with abuse in alcohol consumption.Pavanello SInt J Cancer
12244546Influence of ADH1B polymorphism on alcohol use and its subjective effects in a Jewish population.Carr LGAm J Med Genet
23414439Alcohol dehydrogenase-1B genotype (rs1229984) is a strong determinant of the relationship between body weight and alcohol intake in Japanese alcoholic men.Yokoyama AAlcohol Clin Exp Res
23629646Epidemiology of esophageal cancer in Japan and China.Lin YJ Epidemiol
2547609The genes for human alcohol dehydrogenases beta 1 and beta 2 differ by only one nucleotide.Matsuo YEur J Biochem
24114820Genetic factors affecting susceptibility to alcoholic liver disease in an Indian population.Dutta AKAnn Hepatol
19698717Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.Cui RGastroenterology
21378355Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients with oral and laryngeal cancer: preliminary study.Marichalar-Mendia XAnticancer Res
20332099A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.Kalsi GHum Mol Genet
19298322Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans.Sherva RAlcohol Clin Exp Res
26644136Excessive alcohol consumption increases mortality in later life: a genetic analysis of the health in men cohort study.Almeida OPAddict Biol
23430454Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population.Gao YHum Genet
22560290A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.Celorrio DAlcohol
21940907Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer.Hakenewerth AMCancer Epidemiol Biomarkers Prev
15911586Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci.Hughes ALGenetics
19124091Distribution of the alcohol dehydrogenase ADH1B*47His allele in Eurasia.Borinskaya SAm J Hum Genet
23166662Fetal alcohol exposure and IQ at age 8: evidence from a population-based birth-cohort study.Lewis SJPLoS One
26232779Differential Effect of Initiating Moderate Red Wine Consumption on 24-h Blood Pressure by Alcohol Dehydrogenase Genotypes: Randomized Trial in Type 2 Diabetes.Gepner YAm J Hypertens
21900886Pharmacogenetics of naltrexone in asian americans: a randomized placebo-controlled laboratory study.Ray LANeuropsychopharmacology
6374651Human liver alcohol dehydrogenase: amino acid substitution in the beta 2 beta 2 Oriental isozyme explains functional properties, establishes an active site structure, and parallels mutational exchanges in the yeast enzyme.Jornvall HProc Natl Acad Sci U S A
22325912Determination of the effects of alcohol dehydrogenase (ADH) 1B and ADH1C polymorphisms on alcohol dependence in Turkey.Aktas EOSci Justice
22150722ADH1B polymorphism, alcohol consumption, and binge drinking in Slavic Caucasians: results from the Czech HAPIEE study.Hubacek JAAlcohol Clin Exp Res
12050823A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity.Osier MVAm J Hum Genet
21576033ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population.Ji YBOral Oncol
26588883Moderate alcohol drinking in pregnancy increases risk for children's persistent conduct problems: causal effects in a Mendelian randomisation study.Murray JJ Child Psychol Psychiatry
27688118Single nucleotide polymorphisms as markers of genetic susceptibility for oral potentially malignant disorders risk: Review of evidence to date.Shridhar KOral Oncol
19262484Gene-environmental interaction regarding alcohol-metabolizing enzymes in the Japanese general population.Tsuchihashi-Makaya MHypertens Res
26091847Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.Wang LBMC Genet
24735490Genetic variants in or near ADH1B and ADH1C affect susceptibility to alcohol dependence in a British and Irish population.Way MAddict Biol
21437268A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.McKay JDPLoS Genet
21338875Genetic vulnerability and susceptibility to substance dependence.Bierut LJNeuron
26827895Alcohol Drinking Mediates the Association between Polymorphisms of ADH1B and ALDH2 and Hepatitis B-Related Hepatocellular Carcinoma.Liu JCancer Epidemiol Biomarkers Prev
20336794A single nucleotide polymorphism in the alcohol dehydrogenase 7 gene (alanine to glycine substitution at amino acid 92) is associated with the risk of squamous cell carcinoma of the head and neck.Wei SCancer
22144473Genetic variation in alcohol dehydrogenase (ADH1A, ADH1B, ADH1C, ADH7) and aldehyde dehydrogenase (ALDH2), alcohol consumption and gastric cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort.Duell EJCarcinogenesis
27778410Mendelian randomisation suggests no beneficial effect of moderate alcohol consumption on the severity of nonalcoholic fatty liver disease.Sookoian SAliment Pharmacol Ther
23149980Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphisms, alcohol intake and the risk of colorectal cancer in the European Prospective Investigation into Cancer and Nutrition study.Ferrari PEur J Clin Nutr
27643404Alcohol consumption and prostate cancer incidence and progression: A Mendelian randomisation study.Brunner CInt J Cancer
17273965Evidence of positive selection on a class I ADH locus.Han YAm J Hum Genet
20585100Genome-wide association studies of cancer.Stadler ZKJ Clin Oncol
21168396Variation in the ADH1B proximal promoter affects expression.Pochareddy SChem Biol Interact
20810466Maternal alcohol consumption, alcohol metabolism genes, and the risk of oral clefts: a population-based case-control study in Norway, 1996-2001.Boyles ALAm J Epidemiol
22690706Association of alcohol dehydrogenase polymorphisms and life-style factors with excessive alcohol intake within the Spanish population (EPIC-Spain).Munoz XAddiction
22507220Epidemiologic differences in esophageal cancer between Asian and Western populations.Zhang HZChin J Cancer
12452180Alcohol dehydrogenase and alcohol dependence: variation in genotype-associated risk between populations.Whitfield JBAm J Hum Genet
17923853Alcoholism and alcohol drinking habits predicted from alcohol dehydrogenase genes.Tolstrup JSPharmacogenomics J
27927211Genetic variations of aldehyde dehydrogenase 2 and alcohol dehydrogenase 1B are associated with the etiology of atrial fibrillation in Japanese.Nakano YJ Biomed Sci
18331377Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample.Kuo PHAlcohol Clin Exp Res
24553426Alcohol consumption and cognitive impairment in older men: a mendelian randomization study.Almeida OPNeurology
20219057ADH1B*2 allele is protective against alcoholism but not chronic liver disease in the Hungarian population.Toth RAddiction
17718394The genetics of alcohol metabolism: role of alcohol dehydrogenase and aldehyde dehydrogenase variants.Edenberg HJAlcohol Res Health
25047496Synergistic association between two alcohol metabolism relevant genes and coronary artery disease among Chinese hypertensive patients.Wang YPLoS One
21917409Alcohol drinking, mean corpuscular volume of erythrocytes, and alcohol metabolic genotypes in drunk drivers.Pavanello SAlcohol
24716453Alcohol consumption and cognitive performance: a Mendelian randomization study.Kumari MAddiction
27827401Alcohol consumption, genetic variants in the alcohol- and folate metabolic pathways and colorectal cancer risk: the JPHC Study.Svensson TSci Rep
27588484Gene-gene interactions in gastrointestinal cancer susceptibility.Kim JOncotarget
20100738Prevalence and persistence of chromosomal damage and susceptible genotypes of metabolic and DNA repair genes in Chinese vinyl chloride-exposed workers.Ji FCarcinogenesis
19687126A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.Zuccolo LHum Mol Genet
18056758Major genetic components underlying alcoholism in Korean population.Kim DJHum Mol Genet
21303386Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.Celorrio DAlcohol Clin Exp Res
21083667Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations.Liu JAlcohol Clin Exp Res
23806636Prenatal alcohol exposure and childhood atopic disease: a Mendelian randomization approach.Shaheen SOJ Allergy Clin Immunol
27986911Aldehyde Dehydrogenase 2 Polymorphism Is a Predictor of Smoking Cessation.Masaoka HNicotine Tob Res
18518925Genetic susceptibility to heroin addiction: a candidate gene association study.Levran OGenes Brain Behav
21807602Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.Zhang GHum Genomics
22806211The genetics of addiction-a translational perspective.Agrawal ATransl Psychiatry
21968928ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry.Bierut LJMol Psychiatry
22662130Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method.Johansson MPLoS One
22301922Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges.Agrawal AAm J Clin Nutr
22675424ADH1C Ile350Val polymorphism and cancer risk: evidence from 35 case-control studies.Xue YPLoS One
27038040ADH1B and ALDH2 are associated with metachronous SCC after endoscopic submucosal dissection of esophageal squamous cell carcinoma.Kagemoto KCancer Med
26924531Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia.Galinsky KJAm J Hum Genet
21926110Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa.Bye HCarcinogenesis
22331481Alcohol, genetics and risk of breast cancer in the Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial.McCarty CABreast Cancer Res Treat
26125444Family history of cancer and the risk of squamous cell carcinoma of oesophagus: a case-control study in Kashmir, India.Bhat GABr J Cancer
25411394Genetic alcohol sensitivity regulated by ALDH2 and ADH1B polymorphisms as indicator of mental disorders in Japanese employees.Yoshimasu KAlcohol Alcohol
20505153A compendium of genome-wide associations for cancer: critical synopsis and reappraisal.Ioannidis JPJ Natl Cancer Inst
23701534Genetic instrumental variable studies of effects of prenatal risk factors.Wehby GLBiodemography Soc Biol
17847010Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia.Li HAm J Hum Genet
21895720Alcohol dehydrogenase-1B Arg47His polymorphism and upper aerodigestive tract cancer risk: a meta-analysis including 24,252 subjects.Guo HAlcohol Clin Exp Res
21467728Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.Wakai KJ Epidemiol
25770642Clinical features and prognostic factors in patients with head and neck cancer: Results from a multicentric study.Leoncini ECancer Epidemiol
23176670High diversity and no significant selection signal of human ADH1B gene in Tibet.Lu YInvestig Genet
25323582Alcohol dehydrogenase-1B Arg47His polymorphism is associated with head and neck cancer risk in Asian: a meta-analysis.Zhang YTumour Biol
21372407Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.Takeuchi FCirc J
23720673Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer.Wang MJ Biomed Res
25639971Polymorphisms in alcohol and tobacco metabolism genes in head and neck cancer in the Basque Country.Bediaga NGJ Oral Pathol Med
27233804Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.Jin TBMC Genet
22052802Gene-environment interactions of novel variants associated with head and neck cancer.Liang CHead Neck
17185388Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.Luo XHum Mol Genet
15863807Alcohol and aldehyde dehydrogenase polymorphisms in men with type I and Type II alcoholism.Chai YGAm J Psychiatry
19826048Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran.Akbari MRCancer Res
26849558Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study.Vu KNPLoS One
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
19737746Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.Xue YGenetics
20158305Associations between ADH gene variants and alcohol phenotypes in Dutch adults.van Beek JHTwin Res Hum Genet
22640768The genetic basis of addictive disorders.Ducci FPsychiatr Clin North Am
20089146The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history.Peng YBMC Evol Biol
25573768Effects of genetic variants of ADH1B and ALDH2 and social network on continued alcohol drinking among young adolescents in Taiwan.Ting TTDrug Alcohol Depend
24065783Prenatal alcohol exposure and offspring cognition and school performance. A 'Mendelian randomization' natural experiment.Zuccolo LInt J Epidemiol
25828809Which alcohol use disorder criteria contribute to the association of ADH1B with alcohol dependence?Hart ABAddict Biol
26937962Genetic Association and Gene-Gene Interaction Reveal Genetic Variations in ADH1B, GSTM1 and MnSOD Independently Confer Risk to Alcoholic Liver Diseases in India.Roy NPLoS One
20700531The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population.Husemoen LLPLoS One
22048268Combined effect of ADH1B RS1229984, RS2066702 and ADH1C RS1693482/ RS698 alleles on alcoholism and chronic liver diseases.Toth RDis Markers
18382665Ethnic related selection for an ADH Class I variant within East Asia.Li HPLoS One
26284938Alcohol Dehydrogenase-1B (rs1229984) and Aldehyde Dehydrogenase-2 (rs671) Genotypes Are Strong Determinants of the Serum Triglyceride and Cholesterol Levels of Japanese Alcoholic Men.Yokoyama APLoS One
2398055Expression and kinetic characterization of variants of human beta 1 beta 1 alcohol dehydrogenase containing substitutions at amino acid 47.Hurley TDJ Biol Chem
25045619The Genetics, Neurogenetics and Pharmacogenetics of Addiction.Demers CHCurr Behav Neurosci Rep
19861527Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population.Oze ICancer Epidemiol Biomarkers Prev
22930414Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China.Wu MInt J Cancer
24018899The triangular association of ADH1B genetic polymorphism, alcohol consumption and the risk of depression in older men.Almeida OPMol Psychiatry
18996923Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.Macgregor SHum Mol Genet
20205700Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians.Linneberg AClin Exp Allergy
22865593Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population.Bye HCarcinogenesis
23088731Tag single nucleotide polymorphisms of alcohol-metabolizing enzymes modify the risk of upper aerodigestive tract cancers: HapMap database analysis.Chung CSDis Esophagus
24633362ALDH2 and ADH1 genetic polymorphisms may contribute to the risk of gastric cancer: a meta-analysis.Wang HLPLoS One
21497796Strong association of the alcohol dehydrogenase 1B gene (ADH1B) with alcohol dependence and alcohol-induced medical diseases.Li DBiol Psychiatry
20833657Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles.Tanaka FGut
24166409Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.Gelernter JMol Psychiatry
22655231Sequence Variants and the Risk of Head and Neck Cancer: Pooled Analysis in the INHANCE Consortium.Chuang SCFront Oncol
24282520Polymorphisms in alcohol metabolism genes ADH1B and ALDH2, alcohol consumption and colorectal cancer.Crous-Bou MPLoS One
21635275Association of alcohol dehydrogenase genes with alcohol-related phenotypes in a Native American community sample.Gizer IRAlcohol Clin Exp Res
21592108Diversification of the ADH1B gene during expansion of modern humans.Li HAnn Hum Genet
23456092Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.Park BLHum Genet
24164917Childhood adversity moderates the effect of ADH1B on risk for alcohol-related phenotypes in Jewish Israeli drinkers.Meyers JLAddict Biol
27991683Platelet Counts and Genetic Polymorphisms of Alcohol Dehydrogenase-1B and Aldehyde Dehydrogenase-2 in Japanese Alcoholic Men.Yokoyama AAlcohol Clin Exp Res
15534263Alcohol dehydrogenase 2 variant is associated with cerebral infarction and lacunae.Suzuki YNeurology
26044620Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.Reyes-Gibby CCBMC Syst Biol
26036284Genomewide Association Study for Maximum Number of Alcoholic Drinks in European Americans and African Americans.Xu KAlcohol Clin Exp Res
26992901Aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 1B (ADH1B) polymorphisms exacerbate bladder cancer risk associated with alcohol drinking: gene-environment interaction.Masaoka HCarcinogenesis
19526455ADH1A variation predisposes to personality traits and substance dependence.Zuo LAm J Med Genet B Neuropsychiatr Genet
25133033Epidemiological studies of esophageal cancer in the era of genome-wide association studies.Wang AHWorld J Gastrointest Pathophysiol
22363810Alcohol consumption, genetic variants in alcohol deydrogenases, and risk of cardiovascular diseases: a prospective study and meta-analysis.Drogan DPLoS One
23969552Blood ethanol levels of nonabstinent Japanese alcoholic men in the morning after drinking and their ADH1B and ALDH2 genotypes.Yokoyama AAlcohol Alcohol
23895337Alcohol-metabolizing genes and alcohol phenotypes in an Israeli household sample.Meyers JLAlcohol Clin Exp Res
19486361Alcohol dehydrogenase 2 genotype and risk for migraine.Garcia-Martin EHeadache
25266489Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.Zhang JBMC Genet
16614111Evidence for an important role of alcohol- and aldehyde-metabolizing genes in cancers of the upper aerodigestive tract.Hashibe MCancer Epidemiol Biomarkers Prev
11545539ADH2 and alcohol-related phenotypes in Ashkenazic Jewish American college students.Shea SHBehav Genet
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet
22332091Recent advances in understanding the role of nutrition in human genome evolution.Ye KAdv Nutr
26542604Alcohol Dehydrogenase-1B (rs1229984) and Aldehyde Dehydrogenase-2 (rs671) Genotypes and Alcoholic Ketosis Are Associated with the Serum Uric Acid Level in Japanese Alcoholic Men.Yokoyama AAlcohol Alcohol
21143251A candidate gene association study of alcohol consumption in young women.Agrawal AAlcohol Clin Exp Res
18936436Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.Chang MHAm J Epidemiol
26825972Relationships of alcohol dehydrogenase 1B (ADH1B) and aldehyde dehydrogenase 2 (ALDH2) genotypes with alcohol sensitivity, drinking behavior and problem drinking in Japanese older men.Hashimoto MEnviron Health Prev Med
27294413Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.-Hum Genomics
25543168Genetic alcohol sensitivity regulated by ALDH2 and ADH1B polymorphisms is strongly associated with depression and anxiety in Japanese employees.Yoshimasu KDrug Alcohol Depend
22674868Genetic variants at 4q23 and 12q24 are associated with head and neck cancer risk in China.Yuan HMol Carcinog

P-Value

SNP ID p-value Traits Study
rs12299841.00E-31alcohol dependence24166409
rs12299842.00E-23alcohol dependence24166409
rs12299842.00E-22alcohol dependence24166409
rs12299843.00E-21alcohol dependence23456092
rs12299840.00000002alcohol consumption23743675

eQTL of rs1229984 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 rs1229984 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 )
chr4100245602100245886E0686283
chr4100221669100221897E070-17422
chr4100244954100245162E0735635
chr4100245344100245493E0736025
chr4100221669100221897E082-17422
chr4100222048100222444E082-16875