rs121434410
A SNP in the LOC101927027 gene on chromosome 2. Its most notable genotype is A;A: Dystonia, type 16
- Gene
- LOC101927027
- Location
- Chr 2178,436,264 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBadCarrier of a dystonia type 16 mutation
- A;AMost notableBadDystonia, type 16
SNPedia records rs121434410 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
aka c.665C>T (p.Pro222Leu or P222L) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive dystonia 16 See also OMIM 603424.0001
A;G
Unaffected in absence of a second mutation in the PRKRA gene.
A;A
see text and links via main rs-page
Source and license
Adapted from rs121434410 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.