rs45539432
A SNP in the PINK1 gene on chromosome 1. Its most notable genotype is T;T: Parkinson's disease, type 6, early-onset; likely
- Gene
- PINK1
- Location
- Chr 120,649,109 (GRCh38)
- Highest magnitude
- 8.9Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodnormal
- C;TBadCarrier of an early-onset Parkinson's mutation
- T;TMost notableBadParkinson's disease, type 6, early-onset; likely
On SNPedia: (C;C), (C;T), (T;T). 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
- 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
- rs74315360A;AParkinson's disease, type 6, early-onsetVery important
Notes
From SNPedia
Show notes, about 120 words
rs45539432, also known as c.1366C>T, Gln456Ter or Q456X, is a SNP in the PINK1 gene. In one German family studied, rs45539432(T;T) homozygotes exhibited early onset Parkinson's disease. Of the rs45539432(C;T) heterozygotes, half showed no signs of Parkinson's, but the other half had subtle signs of disease, consisting of unilaterally reduced or absent arm swing and rigidity. Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 6) 23andMe calls this i5047070
C;T
see Parkinson's disease and PINK1
T;T
see Parkinson's disease and PINK1; note this association is likely but not confirmed according to one source in ClinVar
Source and license
Adapted from rs45539432 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.