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rs698

From SNPedia

Orientationminus
Stabilizedminus
Make rs698(A;A)
Make rs698(A;G)
Make rs698(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position99339632
GeneADH1C
is asnp
is mentioned by
dbSNPrs698
ebirs698
HLIrs698
Exacrs698
Varsomers698
Maprs698
PheGenIrs698
hapmaprs698
1000 genomesrs698
hgdprs698
ensemblrs698
gopubmedrs698
geneviewrs698
scholarrs698
googlers698
pharmgkbrs698
gwascentralrs698
openSNPrs698
23andMers698
23andMe allrs698
SNP Nexus

SNPshotrs698
SNPdbers698
MSV3drs698
GWAS Ctlgrs698
GMAF0.2415
Max Magnitude
? (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.

OMIM103730
DescALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH1C
Variant
Relatedalso



[PMID 19861527] Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population

OMIM103730
Desc
Variant0002
Relatedalso
[PMID 21437268OA-icon.png] A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium


[PMID 22675424OA-icon.png] ADH1C Ile350Val Polymorphism and Cancer Risk: Evidence from 35 Case-Control Studies


ClinVar
Risk rs698(G;G)
Alt rs698(G;G)
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
CLNACC RCV000019811.2,



[PMID 12050823OA-icon.png] 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 16685648OA-icon.png] Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.


[PMID 17185388OA-icon.png] Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.


[PMID 17273965OA-icon.png] Evidence of positive selection on a class I ADH locus.


[PMID 18331377OA-icon.png] Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 18996923OA-icon.png] Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.


[PMID 19124506OA-icon.png] 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 19193628OA-icon.png] ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.


[PMID 19298322OA-icon.png] 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 19526455OA-icon.png] ADH1A variation predisposes to personality traits and substance dependence.


[PMID 21303386] Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.


[PMID 21351086OA-icon.png] 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 22978509OA-icon.png] Convergence of Genome-Wide Association and Candidate Gene Studies for Alcoholism


GET Evidence
ADH1C-I349V
aa_change Ile349Val
aa_change_short I349V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.303013
summary



[PMID 23895337OA-icon.png] Alcohol-Metabolizing Genes and Alcohol Phenotypes in an Israeli Household Sample


[PMID 22476623OA-icon.png] 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 22930414OA-icon.png] 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.