{{Rsnum
|rsid=283413
|Gene=ADH1C
|Chromosome=4
|position=99347033
|Orientation=minus
|ReferenceAllele=G
|GMAF=0.06887
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=ADH1C
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 99.1 | 0.9 | 0.0
| HCB | 99.3 | 0.7 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 99.3 | 0.7 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 97.0 | 3.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 94.8 | 5.2 | 0.0
| MKK | 97.4 | 2.6 | 0.0
| TSI | 98.0 | 2.0 | 0.0
| HapMapRevision=28
}}SNP [[rs283413]], also known as G78stop or 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.

{{omim
|id=103730
|desc=ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH3
|rsnum=283413
}}

{{omim
|id=103730
|rsnum=283413
|variant=0003
}}

{{ClinVar
|rsid=283413
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=100268190
|CHROM=4
|GMAF=0.0687
|dbSNPBuildID=79
|SSR=0
|SAO=1
|VP=0x050168000000150517110100
|WGT=0
|VC=SNV
|CLNALLE=0
|CLNHGVS=NC_000004.11:g.100268190A\x3d
|CLNORIGIN=1
|CLNSRCID=
283413; 103730.0003
|CLNSIG=255
|CLNCUI=
|CLNACC=
RCV000019812.1
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.06887; 0.9311
|CLNDBN=Parkinson disease, susceptibility to
|CLNDSDB=MedGen
|CLNDSDBID=C2676020
|CLNSRC=NCBI curation; OMIM Allelic Variant
|COMMON=1
|Disease=Parkinson disease
|GENEINFO=ADH1C:126
|GENE_ID=126
|GENE_NAME=ADH1C
}}

{{PMID Auto
|PMID=17273965
|Title=Evidence of positive selection on a class I ADH locus.
|OA=1
}}

{{PMID Auto
|PMID=18852891
|Title=Distribution and effects of nonsense polymorphisms in human genes.
|OA=1
}}

{{GET Evidence
|gene=ADH1C
|aa_change=Stop78Gly
|aa_change_short=X78G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs283413
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|nblosum100=4
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}