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rs992037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) lowest lysine values
(C;T) intermediate lysine values
(T;T) highest lysine values
ReferenceGRCh38 38.1/141
Chromosome6
Position161580404
GenePARK2
is asnp
is mentioned by
dbSNPrs992037
ebirs992037
HLIrs992037
Exacrs992037
Varsomers992037
Maprs992037
PheGenIrs992037
hapmaprs992037
1000 genomesrs992037
hgdprs992037
ensemblrs992037
gopubmedrs992037
geneviewrs992037
scholarrs992037
googlers992037
pharmgkbrs992037
gwascentralrs992037
openSNPrs992037
23andMers992037
23andMe allrs992037
SNP Nexus

SNPshotrs992037
SNPdbers992037
MSV3drs992037
GWAS Ctlgrs992037
GMAF0.2805
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs992037 is a SNP located in the Parkinson disease (autosomal recessive, juvenile) 2, parkin PARK2 gene. A study of metabolite concentrations in the blood of 284 adult males from Southern Germany determined that several SNPs were associated either directly with a metabolite range or with a ratio of metabolites. The rarer rs992037(T) allele was associated with increased lysine values. 10.1371/journal.pgen.1000282
Rs992037 334x281.jpg
GWAS snp
PMID [PMID 19043545OA-icon.png]
Trait Serum metabolites
Title Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum
Risk Allele
P-val 1E-7
Odds Ratio NR NR



GET Evidence
rs992037
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.8125
summary