Rs113169049

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Orientationplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;C) 5 Possible late-onset Parkinson's disease variant
(C;C) 5 Possible late-onset Parkinson's disease variant
ReferenceGRCh38 38.1/141
Chromosome3
Position184327277
GeneEIF4G1
is asnp
is mentioned by
dbSNPrs113169049
Exacrs113169049
PheGenIrs113169049
nextbiors113169049
hapmaprs113169049
1000 genomesrs113169049
hgdprs113169049
ensemblrs113169049
gopubmedrs113169049
geneviewrs113169049
scholarrs113169049
googlers113169049
pharmgkbrs113169049
gwascentralrs113169049
openSNPrs113169049
23andMers113169049
23andMe allrs113169049
SNP Nexus

SNPshotrs113169049
SNPdbers113169049
MSV3drs113169049
Max Magnitude5
rs113169049, also known as Ser1164Arg or S1164R, 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 rs113169049(C), 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