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rs45478900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3.1 3 fold increase in risk for Parkinson's disease
(G;G) 0 common/normal


Make rs45478900(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position20648612
GenePINK1, PINK1-AS
is asnp
is mentioned by
dbSNPrs45478900
dbSNP (classic)rs45478900
ClinGenrs45478900
ebirs45478900
HLIrs45478900
Exacrs45478900
Gnomadrs45478900
Varsomers45478900
LitVarrs45478900
Maprs45478900
PheGenIrs45478900
Biobankrs45478900
1000 genomesrs45478900
hgdprs45478900
ensemblrs45478900
geneviewrs45478900
scholarrs45478900
googlers45478900
pharmgkbrs45478900
gwascentralrs45478900
openSNPrs45478900
23andMers45478900
23andMe allrs45478900
SNPshotrs45478900
SNPdbers45478900
MSV3drs45478900
GWAS Ctlgrs45478900
Max Magnitude3.1

rs45478900, also known as c.1231G>A, Gly411Ser or G411S, is a rare mutation in the PINK1 gene on chromosome 1.

A 2016 study of a total of about 7,000 Parkinson's disease patients concluded that carrying a single rs45478900(A) allele increases the odds of developing the disease about 3-fold (p < 0.03). Based on inheritance patterns as well as functional studies, the authors postulate that G411S is a "rare genetic risk factor with a relatively large effect size conferred by a partial dominant-negative function phenotype". The study also showed Parkinson's disease could develop earlier (at about age 55) in G411S carriers compared to the age of onset (~65 years) in the common, nonfamilial forms of Parkinson's.dx.doi.org/10.1093/brain/aww261