rs1693482
| Orientation | plus |
| Stabilized | plus |
| Make rs1693482(C;C) |
| Make rs1693482(C;T) |
| Make rs1693482(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 99342808 |
| Gene | ADH1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1693482 |
| dbSNP (classic) | rs1693482 |
| ClinGen | rs1693482 |
| ebi | rs1693482 |
| HLI | rs1693482 |
| Exac | rs1693482 |
| Gnomad | rs1693482 |
| Varsome | rs1693482 |
| LitVar | rs1693482 |
| Map | rs1693482 |
| PheGenI | rs1693482 |
| Biobank | rs1693482 |
| 1000 genomes | rs1693482 |
| hgdp | rs1693482 |
| ensembl | rs1693482 |
| geneview | rs1693482 |
| scholar | rs1693482 |
| rs1693482 | |
| pharmgkb | rs1693482 |
| gwascentral | rs1693482 |
| openSNP | rs1693482 |
| 23andMe | rs1693482 |
| SNPshot | rs1693482 |
| SNPdbe | rs1693482 |
| MSV3d | rs1693482 |
| GWAS Ctlg | rs1693482 |
| GMAF | 0.2397 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1693482, also known as Arg272Gln, is a SNP in the alcohol dehydrogenase 1C ADH1C gene. The rs1693482(C) allele is the more common, encoding the amino acid arginine (Arg); the rarer rs1693482(T) allele encodes the variant glutamine (Gln).
A study of 575 Irish alcoholics observed an association between rs1693482 and risk for alcohol dependence.[PMID 18331377
]
On it's own, this SNP is also said to explain 8.4% 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
| ClinVar | |
|---|---|
| Risk | rs1693482(T;T) |
| Alt | rs1693482(T;T) |
| Reference | rs1693482(C;C) |
| Significance | Other |
| Disease | Alcohol dependence |
| Variation | info |
| Gene | ADH1C |
| CLNDBN | Alcohol dependence |
| Reversed | 0 |
| HGVS | NC_000004.11:g.100263965C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019810.2, |
[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 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 19193628] ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19526455] ADH1A variation predisposes to personality traits and substance dependence.
[PMID 20700531] The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population.
[PMID 21303386] Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.
[PMID 22560290] A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.
[PMID 23404349] Childhood acute leukemia, maternal beverage intake during pregnancy, and metabolic polymorphisms.
