rs698
| Orientation | minus |
| Stabilized | minus |
| Make rs698(A;A) |
| Make rs698(A;G) |
| Make rs698(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 99339632 |
| Gene | ADH1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs698 |
| dbSNP (classic) | rs698 |
| ClinGen | rs698 |
| ebi | rs698 |
| HLI | rs698 |
| Exac | rs698 |
| Gnomad | rs698 |
| Varsome | rs698 |
| LitVar | rs698 |
| Map | rs698 |
| PheGenI | rs698 |
| Biobank | rs698 |
| 1000 genomes | rs698 |
| hgdp | rs698 |
| ensembl | rs698 |
| geneview | rs698 |
| scholar | rs698 |
| rs698 | |
| pharmgkb | rs698 |
| gwascentral | rs698 |
| openSNP | rs698 |
| 23andMe | rs698 |
| SNPshot | rs698 |
| SNPdbe | rs698 |
| MSV3d | rs698 |
| GWAS Ctlg | rs698 |
| GMAF | 0.2415 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
dbSNP says its multiallelic and on the minus strand. In 23andMe results T is reference and C is minor.
rs698 is also known as Ile350Phe, and is a SNP in the alcohol dehydrogenase 1C ADH1C gene. The rs698(A) allele is the more common, encoding the amino acid isoleucine (Ile); the quite rare rs698(T) allele encodes the variant phenylalanine (Phe).
On it's own, this SNP is said to explain 12.3% of the variability in the rate at which alcohol is metabolized, based on a study of 250 Spaniards.[PMID 20101753]
More significantly (in a statistical sense), this study concluded that combinations of this SNP and others were shown to affect alcohol metabolism; most of these combinations are represented by the gs211 genoset.
Note that the effects of alcohol are higher in individuals who break down (basically, detoxify) ethanol more slowly.
[PMID 19861527] Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population
[PMID 21437268
] A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium
[PMID 22675424] ADH1C Ile350Val Polymorphism and Cancer Risk: Evidence from 35 Case-Control Studies
| ClinVar | |
|---|---|
| Risk | rs698(G;G) rs698(T;T) |
| Alt | rs698(G;G) rs698(T;T) |
| Reference | rs698(A;A) |
| Significance | Other |
| Disease | Alcohol dependence |
| Variation | info |
| Gene | ADH1C |
| CLNDBN | Alcohol dependence |
| Reversed | 1 |
| HGVS | NC_000004.11:g.100260789T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019811.2, |
[PMID 12050823] A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity.
[PMID 16018848] Influence of alcohol dehydrogenase 1C polymorphism on the alcohol-cardiovascular disease association (from the Framingham Offspring Study).
[PMID 16685648] Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.
[PMID 17185388] Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.
[PMID 17273965] Evidence of positive selection on a class I ADH locus.
[PMID 18331377] Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18996923] Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.
[PMID 19124506] Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
[PMID 19189524] [Distribution of alcohol dehydrogenase (ADH1C) genotypes in subjects with tobacco smoke-associated laryngeal cancer].
[PMID 19193628] ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.
[PMID 19298322] Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans.
[PMID 19447389] Genetic variation of alcohol dehydrogenase type 1C (ADH1C), alcohol consumption, and metabolic cardiovascular risk factors: results from the IMMIDIET study.
[PMID 19526455] ADH1A variation predisposes to personality traits and substance dependence.
[PMID 21303386] Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.
[PMID 21351086] Shortened telomeres in individuals with abuse in alcohol consumption.
[PMID 21917409] Alcohol drinking, mean corpuscular volume of erythrocytes, and alcohol metabolic genotypes in drunk drivers.
[PMID 22325912] Determination of the effects of alcohol dehydrogenase (ADH) 1B and ADH1C polymorphisms on alcohol dependence in Turkey.
[PMID 22978509] Convergence of Genome-Wide Association and Candidate Gene Studies for Alcoholism
[PMID 23895337] Alcohol-Metabolizing Genes and Alcohol Phenotypes in an Israeli Household Sample
[PMID 22476623] Further clarification of the contribution of the ADH1C gene to vulnerability of alcoholism and selected liver diseases.
[PMID 22560290] A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.
[PMID 22930414] Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China.
[PMID 23404349] Childhood acute leukemia, maternal beverage intake during pregnancy, and metabolic polymorphisms.
[PMID 25524923] Genetic polymorphisms of ADH1B, ADH1C and ALDH2, alcohol consumption, and the risk of gastric cancer: the Japan Public Health Center-based prospective study
[PMID 26842247] Association Study of Gene Polymorphisms in GABA, Serotonin, Dopamine, and Alcohol Metabolism Pathways with Alcohol Dependence in Taiwanese Han Men.
