rs587778771
A SNP in the PRRT2 gene on chromosome 16. Its most notable genotype is -;C: Dystonia, type 10
- Gene
- PRRT2
- Location
- Chr 1629,813,703 (GRCh38)
- Highest magnitude
- 5.8Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;CMost notableBadDystonia, type 10
On SNPedia: (-;-), (-;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
aka c.649dupC (p.Arg217Profs*8) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant dystonia (type 10), also known as episodic kinesigenic dyskinesia-1 or paroxysmal kinesigenic dyskinesia see also OMIM 614386.0001
-;C
see text and links via main rs-page
Source and license
Adapted from rs587778771 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.