rs45478900
A SNP in the PINK1 gene on chromosome 1. Its most notable genotype is A;G: 3 fold increase in risk for Parkinson's disease
- Gene
- PINK1
- Location
- Chr 120,648,612 (GRCh38)
- Highest magnitude
- 3.1Important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PINK1 SNPs
- rs28940284A;AParkinson's disease, type 6, early-onsetVery important
- rs28940285C;CParkinson's disease, type 6, early-onsetVery important
- rs45539432T;TParkinson's disease, type 6, early-onset; likelyVery important
- rs74315355A;AParkinson's disease, type 6, early-onsetVery important
- rs74315356A;AParkinson's disease, type 6, early-onsetVery important
- rs74315357T;TParkinson's disease, type 6, early-onsetVery important
- rs74315358A;AParkinson's disease, type 6, early-onsetVery important
- rs74315359T;TParkinson's disease, type 6, early-onsetVery important
Notes
From SNPedia
Show notes, about 120 words
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.
A;G
see discussion at rs45478900
Source and license
Adapted from rs45478900 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.