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rs111290936

From SNPedia

Late-onset Parkinson's disease
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 8 Late-onset Parkinson's disease (likely)
(T;T) 8 Late-onset Parkinson's disease (likely)
ReferenceGRCh38 38.1/141
Chromosome3
Position184322089
GeneEIF4G1
is asnp
is mentioned by
dbSNPrs111290936
ebirs111290936
HLIrs111290936
Exacrs111290936
Varsomers111290936
Maprs111290936
PheGenIrs111290936
hapmaprs111290936
1000 genomesrs111290936
hgdprs111290936
ensemblrs111290936
gopubmedrs111290936
geneviewrs111290936
scholarrs111290936
googlers111290936
pharmgkbrs111290936
gwascentralrs111290936
openSNPrs111290936
23andMers111290936
23andMe allrs111290936
SNP Nexus

SNPshotrs111290936
SNPdbers111290936
MSV3drs111290936
GWAS Ctlgrs111290936
Max Magnitude8
rs111290936, also known as Ala502Val or A502V, 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 rs111290936(T), a very rare allele, is likely to 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

ClinVar
Risk rs111290936(T;T)
Alt rs111290936(T;T)
Reference rs111290936(C;C)
Significance Other
Disease Parkinson disease 18
Variation info
Gene EIF4G1
CLNDBN Parkinson disease 18
Reversed 0
HGVS NC_000003.11:g.184039877C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022976.4,