rs121434512

A SNP in the PNKD gene on chromosome 2. Its most notable genotype is C;T: paroxysmal nonkinesigenic dyskinesia

Gene
PNKD
Location
Chr 2218,270,555 (GRCh38)
Highest magnitude
5.8Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadparoxysmal nonkinesigenic dyskinesiaVery important · 5.8

On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other PNKD SNPs

All PNKD SNPs

Notes

From SNPedia

Notes

aka c.20C>T (p.Ala7Val or A7V) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant paroxysmal nonkinesigenic dyskinesia See also OMIM 609023.0002

C;T

see text and links via main rs-page

Source and license

Adapted from rs121434512 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.