chr4:100239319:T>C Detail (hg19) (ADH1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:100,239,319-100,239,319 |
| hg38 | chr4:99,318,162-99,318,162 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000668.5:c.143A>G | NP_000659.2:p.His48Arg |
| NM_001286650.1:c.23A>G | NP_001273579.1:p.His8Arg | |
| Ensemble | ENST00000305046.13:c.143A>G | ENST00000305046.13:p.His48Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.230 |
| ToMMo:0.243 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.267 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Carcinogenesis | Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehy... | BeFree | 16332725 | Detail |
| 0.004 | Malignant neoplasm of stomach | No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1... | BeFree | 25524923 | Detail |
| 0.002 | Squamous cell carcinoma of the head and neck | The authors conducted a hospital-based study of 1110 patients with squamous cell... | BeFree | 20336794 | Detail |
| 0.013 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| 0.001 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| 0.347 | Alcoholic Intoxication, Chronic | Genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B, rs1229984) and aldehyd... | BeFree | 23969552 | Detail |
| <0.001 | Carcinoma of larynx | Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients w... | BeFree | 21378355 | Detail |
| 0.471 | Alcoholic Intoxication, Chronic | Genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B, rs1229984) and aldehyd... | BeFree | 23969552 | Detail |
| 0.347 | Alcoholic Intoxication, Chronic | We tested the most significant ADH1B single nucleotide polymorphisms for alcohol... | BeFree | 25410943 | Detail |
| 0.003 | drug dependence | A variant of the ADH1B gene (rs1229984 or Arg48His; previously referred to as Ar... | BeFree | 21497796 | Detail |
| 0.015 | Alcoholic Intoxication, Chronic | Because alcohol dehydrogenase (ADH1B) His47Arg and mitochondrial aldehyde dehydr... | BeFree | 20180859 | Detail |
| 0.002 | colorectal carcinoma | Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehy... | BeFree | 16332725 | Detail |
| 0.004 | Cancer of Head and Neck | Alcohol dehydrogenase-1B Arg47His polymorphism is associated with head and neck ... | BeFree | 25323582 | Detail |
| <0.001 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| 0.003 | esophageal carcinoma | To assess the actual influence of ADH2 Arg47His, ALDH2 Glu487Lys and CYP2E1 vari... | BeFree | 16235983 | Detail |
| 0.133 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| <0.001 | Cardiovascular Diseases | To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an ... | BeFree | 25011450 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| 0.004 | Malignant neoplasm of stomach | A known functional SNP in ADH1B (rs1229984) was associated with alcohol intake (... | BeFree | 22144473 | Detail |
| 0.124 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| 0.180 | Esophageal Neoplasms | The functional polymorphisms ADH1B rs1229984 may contribute to susceptibility to... | BeFree | 24093763 | Detail |
| 0.004 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| 0.003 | Coronary Arteriosclerosis | Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of... | BeFree | 17289126 | Detail |
| 0.016 | colorectal cancer | A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms ... | BeFree | 16332725 | Detail |
| 0.002 | colorectal carcinoma | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs18... | BeFree | 24552298 | Detail |
| 0.026 | Alcohol abuse | We genotyped the rs1229984 G→A variant of the alcohol dehydrogenase 1B (ADH1B) g... | BeFree | 24553426 | Detail |
| 0.347 | Alcoholic Intoxication, Chronic | In case-control analysis, ADH1B rs1229984 (H47R) showed the most significant ass... | GWASCAT | 23456092 | Detail |
| 0.158 | Malignant neoplasm of esophagus | Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergis... | GWASCAT | 19698717 | Detail |
| 0.124 | Squamous cell carcinoma of esophagus | The genetic variations of ADH1B His47Arg and ALDH2 Glu487Lys are susceptible loc... | BeFree | 21157980 | Detail |
| 0.158 | Malignant neoplasm of esophagus | The functional polymorphisms ADH1B rs1229984 may contribute to susceptibility to... | BeFree | 24093763 | Detail |
| 0.158 | Malignant neoplasm of esophagus | [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergi... | GAD | 19698717 | Detail |
| 0.234 | coronary artery disease | Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of... | BeFree | 17289126 | Detail |
| <0.001 | Malignant neoplasm of mouth | This association was also evident in subgroups of older patients (aged >57 ye... | BeFree | 20336794 | Detail |
| 0.002 | colorectal cancer | Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehy... | BeFree | 16332725 | Detail |
| 0.039 | colorectal cancer | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs18... | BeFree | 24552298 | Detail |
| 0.124 | Squamous cell carcinoma of esophagus | We identified the significant associations of ESCC with 4q21-23 and 12q24 region... | BeFree | 19698717 | Detail |
| 0.026 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| 0.001 | Squamous cell carcinoma of the head and neck | The authors conducted a hospital-based study of 1110 patients with squamous cell... | BeFree | 20336794 | Detail |
| <0.001 | ABUSE NEGLECT | We assessed the main and additive interactive effects of childhood adversity (ab... | BeFree | 24164917 | Detail |
| 0.003 | coronary artery disease | Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of... | BeFree | 17289126 | Detail |
| 0.007 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| 0.006 | diabetes mellitus | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| 0.092 | Coronary Arteriosclerosis | Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of... | BeFree | 17289126 | Detail |
| 0.003 | Malignant neoplasm of pancreas | Based on the assumption that genetic variation in carcinogen metabolism further ... | BeFree | 19812523 | Detail |
| <0.001 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| 0.180 | Esophageal Neoplasms | ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-in... | BeFree | 21048924 | Detail |
| 0.033 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| 0.019 | Head and Neck Neoplasms | [A genome-wide association study of upper aerodigestive tract cancers conducted ... | GAD | 21437268 | Detail |
| 0.016 | colorectal cancer | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs18... | BeFree | 24552298 | Detail |
| 0.029 | Malignant neoplasm of esophagus | To assess the actual influence of ADH2 Arg47His, ALDH2 Glu487Lys and CYP2E1 vari... | BeFree | 16235983 | Detail |
| 0.002 | Malignant neoplasm of esophagus | [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergi... | GAD | 19698717 | Detail |
| 0.126 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| 0.004 | alcohol use disorder | Therefore, among those at risk for greater consumption, e.g. those who experienc... | BeFree | 24164917 | Detail |
| 0.015 | Alcoholic Intoxication, Chronic | In recent studies of the role of the alcohol dehydrogenase genes (ADH) in alcoho... | BeFree | 15048643 | Detail |
| <0.001 | Lip and oral cavity carcinoma | This association was also evident in subgroups of older patients (aged >57 ye... | BeFree | 20336794 | Detail |
| 0.126 | Squamous cell carcinoma of esophagus | The genetic variations of ADH1B His47Arg and ALDH2 Glu487Lys are susceptible loc... | BeFree | 21157980 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | We found significant association with risk of ESCC for four SNPs, including rs14... | BeFree | 23430454 | Detail |
| <0.001 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| 0.001 | Diabetes | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| 0.028 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| <0.001 | pancreatic carcinoma | Based on the assumption that genetic variation in carcinogen metabolism further ... | BeFree | 19812523 | Detail |
| 0.013 | Alcohol abuse | Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) o... | BeFree | 21917409 | Detail |
| 0.025 | colorectal cancer | A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms ... | BeFree | 16332725 | Detail |
| 0.001 | Squamous cell carcinoma of the head and neck | Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95... | BeFree | 21940907 | Detail |
| 0.126 | Squamous cell carcinoma of esophagus | We identified the significant associations of ESCC with 4q21-23 and 12q24 region... | BeFree | 19698717 | Detail |
| <0.001 | Malignant neoplasm of larynx | Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients w... | BeFree | 21378355 | Detail |
| <0.001 | Cancer of Head and Neck | An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro,... | BeFree | 22500060 | Detail |
| 0.014 | Alcoholic Intoxication, Chronic | In conclusion, the rare ADH1B rs1229984 mutation provides significant protection... | BeFree | 24735490 | Detail |
| <0.001 | Impaired glucose tolerance | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| 0.180 | Esophageal Neoplasms | [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergi... | GAD | 19698717 | Detail |
| 0.347 | Alcoholic Intoxication, Chronic | In recent studies of the role of the alcohol dehydrogenase genes (ADH) in alcoho... | BeFree | 15048643 | Detail |
| 0.004 | Cancer of Head and Neck | Multiple regression analyses showed that individuals with the mutant genotype AD... | BeFree | 19887496 | Detail |
| 0.007 | esophageal carcinoma | The functional polymorphisms ADH1B rs1229984 may contribute to susceptibility to... | BeFree | 24093763 | Detail |
| 0.002 | Carcinogenesis | Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehy... | BeFree | 16332725 | Detail |
| 0.002 | Squamous cell carcinoma of the head and neck | Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95... | BeFree | 21940907 | Detail |
| <0.001 | substance dependence | A variant of the ADH1B gene (rs1229984 or Arg48His; previously referred to as Ar... | BeFree | 21497796 | Detail |
| 0.002 | colorectal carcinoma | A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms ... | BeFree | 16332725 | Detail |
| 0.044 | Coronary heart disease | Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of... | BeFree | 17289126 | Detail |
| 0.004 | colorectal carcinoma | A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms ... | BeFree | 16332725 | Detail |
| 0.002 | stomach carcinoma | A known functional SNP in ADH1B (rs1229984) was associated with alcohol intake (... | BeFree | 22144473 | Detail |
| 0.007 | esophageal carcinoma | ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-in... | BeFree | 21048924 | Detail |
| 0.005 | Coronary heart disease | Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of... | BeFree | 17289126 | Detail |
| 0.011 | colorectal carcinoma | The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs18... | BeFree | 24552298 | Detail |
| 0.020 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| <0.001 | Impaired glucose tolerance | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| <0.001 | nicotine dependence | We investigated six variants known to influence nicotine addiction or alcohol me... | BeFree | 24505444 | Detail |
| 0.004 | alcohol use disorder | The functional variant rs1229984 in alcohol dehydrogenase 1B (ADH1B) has been as... | BeFree | 25257461 | Detail |
| 0.158 | Malignant neoplasm of esophagus | ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-in... | BeFree | 21048924 | Detail |
| 0.004 | diabetes mellitus | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
| 0.004 | Liver diseases | The aim of this study was to analyze the combined effect of the most frequent al... | BeFree | 22048268 | Detail |
| 0.011 | Flushing | These results bridge the gap between DNA sequence variation and alcohol-related ... | BeFree | 18996923 | Detail |
| 0.001 | Squamous cell carcinoma of the head and neck | The authors conducted a hospital-based study of 1110 patients with squamous cell... | BeFree | 20336794 | Detail |
| 0.002 | stomach carcinoma | No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1... | BeFree | 25524923 | Detail |
| 0.026 | Alcohol abuse | Given the logistic and ethical constraints that would be associated with a trial... | BeFree | 24018899 | Detail |
| 0.029 | Esophageal Neoplasms | To assess the actual influence of ADH2 Arg47His, ALDH2 Glu487Lys and CYP2E1 vari... | BeFree | 16235983 | Detail |
| 0.002 | Carcinogenesis | Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehy... | BeFree | 16332725 | Detail |
| 0.001 | Diabetes | Significant interactions were observed between alcohol and ADH1b (rs1229984) wit... | BeFree | 20700531 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehydrogenase 2 (ADH2) H... | DisGeNET | Detail |
| No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1C (rs698) and ALDH2 ... | DisGeNET | Detail |
| The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the he... | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| Genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B, rs1229984) and aldehyde dehydrogenase-2 (A... | DisGeNET | Detail |
| Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients with oral and larynge... | DisGeNET | Detail |
| Genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B, rs1229984) and aldehyde dehydrogenase-2 (A... | DisGeNET | Detail |
| We tested the most significant ADH1B single nucleotide polymorphisms for alcohol dependence from a g... | DisGeNET | Detail |
| A variant of the ADH1B gene (rs1229984 or Arg48His; previously referred to as Arg [*1] and His [*1])... | DisGeNET | Detail |
| Because alcohol dehydrogenase (ADH1B) His47Arg and mitochondrial aldehyde dehydrogenase (ALDH2) Glu4... | DisGeNET | Detail |
| Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehydrogenase 2 (ADH2) H... | DisGeNET | Detail |
| Alcohol dehydrogenase-1B Arg47His polymorphism is associated with head and neck cancer risk in Asian... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| To assess the actual influence of ADH2 Arg47His, ALDH2 Glu487Lys and CYP2E1 variant c2 allele polymo... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to invest... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| A known functional SNP in ADH1B (rs1229984) was associated with alcohol intake (P-value = 0.04) but ... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| The functional polymorphisms ADH1B rs1229984 may contribute to susceptibility to esophageal cancer. | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary ... | DisGeNET | Detail |
| A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk o... | DisGeNET | Detail |
| The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk ... | DisGeNET | Detail |
| We genotyped the rs1229984 G→A variant of the alcohol dehydrogenase 1B (ADH1B) gene, which is associ... | DisGeNET | Detail |
| In case-control analysis, ADH1B rs1229984 (H47R) showed the most significant association with the ri... | DisGeNET | Detail |
| Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esop... | DisGeNET | Detail |
| The genetic variations of ADH1B His47Arg and ALDH2 Glu487Lys are susceptible loci for ESCC in Chines... | DisGeNET | Detail |
| The functional polymorphisms ADH1B rs1229984 may contribute to susceptibility to esophageal cancer. | DisGeNET | Detail |
| [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance eso... | DisGeNET | Detail |
| Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary ... | DisGeNET | Detail |
| This association was also evident in subgroups of older patients (aged >57 years), men, former sm... | DisGeNET | Detail |
| Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehydrogenase 2 (ADH2) H... | DisGeNET | Detail |
| The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk ... | DisGeNET | Detail |
| We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include non... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the he... | DisGeNET | Detail |
| We assessed the main and additive interactive effects of childhood adversity (abuse, neglect and par... | DisGeNET | Detail |
| Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary ... | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary ... | DisGeNET | Detail |
| Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-incidence Asian popula... | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| [A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE c... | DisGeNET | Detail |
| The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk ... | DisGeNET | Detail |
| To assess the actual influence of ADH2 Arg47His, ALDH2 Glu487Lys and CYP2E1 variant c2 allele polymo... | DisGeNET | Detail |
| [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance eso... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| Therefore, among those at risk for greater consumption, e.g. those who experienced childhood adversi... | DisGeNET | Detail |
| In recent studies of the role of the alcohol dehydrogenase genes (ADH) in alcoholism the ADH1B Arg47... | DisGeNET | Detail |
| This association was also evident in subgroups of older patients (aged >57 years), men, former sm... | DisGeNET | Detail |
| The genetic variations of ADH1B His47Arg and ALDH2 Glu487Lys are susceptible loci for ESCC in Chines... | DisGeNET | Detail |
| We found significant association with risk of ESCC for four SNPs, including rs1494961 in HEL308 at 4... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| Based on the assumption that genetic variation in carcinogen metabolism further modifies the risk of... | DisGeNET | Detail |
| Among conventional markers of alcohol abuse, the mean corpuscular volume (MCV) of erythrocytes is pr... | DisGeNET | Detail |
| A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk o... | DisGeNET | Detail |
| Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95% CI, 0.6-0.9) and A... | DisGeNET | Detail |
| We identified the significant associations of ESCC with 4q21-23 and 12q24 regions, which include non... | DisGeNET | Detail |
| Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients with oral and larynge... | DisGeNET | Detail |
| An increased risk for HNC was also associated reported for P53 codon 72 Pro/Pro, ALDH2 and three var... | DisGeNET | Detail |
| In conclusion, the rare ADH1B rs1229984 mutation provides significant protection against ADS in this... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| [Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance eso... | DisGeNET | Detail |
| In recent studies of the role of the alcohol dehydrogenase genes (ADH) in alcoholism the ADH1B Arg47... | DisGeNET | Detail |
| Multiple regression analyses showed that individuals with the mutant genotype ADH1B Arg(48)His who c... | DisGeNET | Detail |
| The functional polymorphisms ADH1B rs1229984 may contribute to susceptibility to esophageal cancer. | DisGeNET | Detail |
| Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehydrogenase 2 (ADH2) H... | DisGeNET | Detail |
| Two SNPs were associated with SCCHN risk: ADH1B rs1229984 A allele (OR = 0.7; 95% CI, 0.6-0.9) and A... | DisGeNET | Detail |
| A variant of the ADH1B gene (rs1229984 or Arg48His; previously referred to as Arg [*1] and His [*1])... | DisGeNET | Detail |
| A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk o... | DisGeNET | Detail |
| Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary ... | DisGeNET | Detail |
| A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk o... | DisGeNET | Detail |
| A known functional SNP in ADH1B (rs1229984) was associated with alcohol intake (P-value = 0.04) but ... | DisGeNET | Detail |
| ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-incidence Asian popula... | DisGeNET | Detail |
| Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary ... | DisGeNET | Detail |
| The current meta-analysis has established that ADH1B (rs1229984) and PPARG (rs1801282) are two risk ... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| We investigated six variants known to influence nicotine addiction or alcohol metabolism, including ... | DisGeNET | Detail |
| The functional variant rs1229984 in alcohol dehydrogenase 1B (ADH1B) has been associated at a genome... | DisGeNET | Detail |
| ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-incidence Asian popula... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
| The aim of this study was to analyze the combined effect of the most frequent alcohol dehydrogenase ... | DisGeNET | Detail |
| These results bridge the gap between DNA sequence variation and alcohol-related behavior, confirming... | DisGeNET | Detail |
| The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the he... | DisGeNET | Detail |
| No association was observed between alcohol consumption, ADH1B (rs1229984), ADH1C (rs698) and ALDH2 ... | DisGeNET | Detail |
| Given the logistic and ethical constraints that would be associated with a trial of alcohol use to p... | DisGeNET | Detail |
| To assess the actual influence of ADH2 Arg47His, ALDH2 Glu487Lys and CYP2E1 variant c2 allele polymo... | DisGeNET | Detail |
| Genetic polymorphisms, aldehyde dehydrogenase (ALDH2) Glu487Lys and alcohol dehydrogenase 2 (ADH2) H... | DisGeNET | Detail |
| Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr4:100,239,319-100,239,319
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 129.21
- Standard deviation of sample read depth (HGVD)
- 62.22
- Number of reference allele (HGVD)
- 1864
- Number of alternative allele (HGVD)
- 556
- Allele Frequency (HGVD)
- 0.22975206611570248
- Gene Symbol (HGVD)
- ADH1B
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1229984
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2428
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4070
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 2306
- East Asian Heterozygous Counts (ExAC)
- 1698
- East Asian Homozygous Counts (ExAC)
- 304
- East Asian Allele Frequency (ExAC)
- 0.26671293083506825
- Chromosome Counts in All Race (ExAC)
- 121402
- Allele Counts in All Race (ExAC)
- 110036
- Heterozygous Counts in All Race (ExAC)
- 6124
- Homozygous Counts in All Race (ExAC)
- 51956
- Allele Frequency in All Race (ExAC)
- 0.9063771601785803
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