Have questions? Visit https://www.reddit.com/r/SNPedia

rs112176450

From SNPedia

Parkinson's disease
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Late-onset Parkinson's disease
(A;G) 8 Late-onset Parkinson's disease
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome3
Position184327401
GeneEIF4G1
is asnp
is mentioned by
dbSNPrs112176450
ebirs112176450
HLIrs112176450
Exacrs112176450
Varsomers112176450
Maprs112176450
PheGenIrs112176450
hapmaprs112176450
1000 genomesrs112176450
hgdprs112176450
ensemblrs112176450
gopubmedrs112176450
geneviewrs112176450
scholarrs112176450
googlers112176450
pharmgkbrs112176450
gwascentralrs112176450
openSNPrs112176450
23andMers112176450
23andMe allrs112176450
SNP Nexus

SNPshotrs112176450
SNPdbers112176450
MSV3drs112176450
GWAS Ctlgrs112176450
GMAF0.0004591
Max Magnitude8
rs112176450, also known as Arg1205His or R1205H, 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 rs112176450(A), a very rare allele, is 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 rs112176450(A;A)
Alt rs112176450(A;A)
Reference rs112176450(G;G)
Significance Other
Disease Parkinson disease 18
Variation info
Gene EIF4G1
CLNDBN Parkinson disease 18
Reversed 0
HGVS NC_000003.11:g.184045189G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022975.5,