rs111290936

Late-onset Parkinson's disease

plus

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)

Reference

GRCh38 38.1/141

Chromosome

3

Position

184322089

Gene

EIF4G1

is a	snp
is	mentioned by
dbSNP	rs111290936
dbSNP (classic)	rs111290936
ClinGen	rs111290936
ebi	rs111290936
HLI	rs111290936
Exac	rs111290936
Gnomad	rs111290936
Varsome	rs111290936
LitVar	rs111290936
Map	rs111290936
PheGenI	rs111290936
Biobank	rs111290936
1000 genomes	rs111290936
hgdp	rs111290936
ensembl	rs111290936
geneview	rs111290936
scholar	rs111290936
google	rs111290936
pharmgkb	rs111290936
gwascentral	rs111290936
openSNP	rs111290936
23andMe	rs111290936
SNPshot	rs111290936
SNPdbe	rs111290936
MSV3d	rs111290936
GWAS Ctlg	rs111290936

Max Magnitude

8

rs111290936, also known as c.1505C>T, 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 UniProtKB (protein)
CLNACC	RCV000022976.4,