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rs283413

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 normal
(G;T) 2.2 3x higher risk for PD
(T;T) 2.5 3x higher risk for PD
ReferenceGRCh38 38.1/141
Chromosome4
Position99347033
GeneADH1C
is asnp
is mentioned by
dbSNPrs283413
ebirs283413
HLIrs283413
Exacrs283413
Varsomers283413
Maprs283413
PheGenIrs283413
hapmaprs283413
1000 genomesrs283413
hgdprs283413
ensemblrs283413
gopubmedrs283413
geneviewrs283413
scholarrs283413
googlers283413
pharmgkbrs283413
gwascentralrs283413
openSNPrs283413
23andMers283413
23andMe allrs283413
SNP Nexus

SNPshotrs283413
SNPdbers283413
MSV3drs283413
GWAS Ctlgrs283413
GMAF0.06887
Max Magnitude2.5
? (G;G) (G;T) (T;T) 28
rs283413, also known as c.232G>T, p.Gly78Ter, G78stop and Gly78X, encodes a rare variant of the ADH1C gene that leads to a truncated alcohol dehydrogenase protein. These types of proteins are involved in detoxification and may be linked to neurodegenerative diseases. The rs283413(G) allele is the more common, encoding the amino acid glycine (Gly); the quite rare rs283413(T) allele encodes the variant stop codon (X).

Originally identified in three Swedish patients with Parkinson's disease (PD), a study of ~1000 PD patients vs. ~1000 controls indicated an odds ratio for the risk allele of 3.25 (CI:1.31-8.05). [This risk is effectively for heterozygotes, since the risk allele is so rare that no homozygotes for it were observed.] In a study of 40 index cases, 10% were found to harbor the rs283413(T) risk allele. [PMID 15642852]

On its own, this SNP is also said to explain 9.0% 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; ADH3
Variant
Relatedalso
OMIM103730
Desc
Variant0003
Relatedalso


ClinVar
Risk rs283413(G;G)
Alt rs283413(G;G)
Reference rs283413(T;T)
Significance Other
Disease Parkinson disease
Variation info
Gene ADH1C
CLNDBN Parkinson disease, mitochondrial
Reversed 1
HGVS NC_000004.11:g.100268190A\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000019812.3,



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


[PMID 18852891OA-icon.png] Distribution and effects of nonsense polymorphisms in human genes.


GET Evidence
ADH1C-X78G
aa_change Stop78Gly
aa_change_short X78G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary