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rs112019125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 5 Possible late-onset Parkinson's disease variant
(T;T) 5 Possible late-onset Parkinson's disease variant
ReferenceGRCh38 38.1/141
Chromosome3
Position184323209
GeneEIF4G1
is asnp
is mentioned by
dbSNPrs112019125
ebirs112019125
HLIrs112019125
Exacrs112019125
Varsomers112019125
Maprs112019125
PheGenIrs112019125
hapmaprs112019125
1000 genomesrs112019125
hgdprs112019125
ensemblrs112019125
gopubmedrs112019125
geneviewrs112019125
scholarrs112019125
googlers112019125
pharmgkbrs112019125
gwascentralrs112019125
openSNPrs112019125
23andMers112019125
23andMe allrs112019125
SNP Nexus

SNPshotrs112019125
SNPdbers112019125
MSV3drs112019125
GWAS Ctlgrs112019125
Max Magnitude5
rs112019125, also known as Gly686Cys or G686C, is a SNP in the eukaryotic translation initiation factor 4 gamma, 1 EIF4G1 gene on chromosome 3.

A study of several cases of familial Parkinson's disease concluded that rs112019125(T), a very rare allele, may be a dominant mutation leading to late-onset disease. Other mutations in the EIF4G1 gene were also found, with varying degrees of certainty regarding their pathogenicity.10.1016/j.ajhg.2011.08.009