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rs113388242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 5 Possible late-onset Parkinson's disease variant
(T;T) 5 Possible late-onset Parkinson's disease variant
ReferenceGRCh38 38.1/141
Chromosome3
Position184327376
GeneEIF4G1
is asnp
is mentioned by
dbSNPrs113388242
ebirs113388242
HLIrs113388242
Exacrs113388242
Varsomers113388242
Maprs113388242
PheGenIrs113388242
hapmaprs113388242
1000 genomesrs113388242
hgdprs113388242
ensemblrs113388242
gopubmedrs113388242
geneviewrs113388242
scholarrs113388242
googlers113388242
pharmgkbrs113388242
gwascentralrs113388242
openSNPrs113388242
23andMers113388242
23andMe allrs113388242
SNP Nexus

SNPshotrs113388242
SNPdbers113388242
MSV3drs113388242
GWAS Ctlgrs113388242
Max Magnitude5
rs113388242, also known as Arg1197Trp or R1197W, 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 rs113388242(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