rs41298442(C;T)

Dopa-responsive dystonia (dominant) mutation

Magnitude
4.5Very important
Repute
Bad
On SNPedia
rs41298442(A;G)Minus strand
Gene
GCH1

Other genotypes of rs41298442

  1. T;TGoodcommon in clinvarTypical · 0.0
  2. C;CMost notableBadDystonia (dopa-responsive) from homozygous GCH1 mutationVery important · 5.0

All about rs41298442

Notes

From SNPedia

Dominant mutation with variable expression and reduced penetrance. Also possible predisposing/risk factor for Parkinson's disease. See main rs-page as well as GCH1 webpage for additional links.

Source and license

Adapted from rs41298442(A;G) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.