rs41298442
A SNP in the GCH1 gene on chromosome 14. Its most notable genotype is C;C: Dystonia (dopa-responsive) from homozygous GCH1 mutation
- Gene
- GCH1
- Location
- Chr 1454,844,099 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TBadDopa-responsive dystonia (dominant) mutation
- C;CMost notableBadDystonia (dopa-responsive) from homozygous GCH1 mutation
SNPedia records rs41298442 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other GCH1 SNPs
- rs886039379-;ATDystonia, dopa-responsiveVery important
- rs104894433A;Gdystonia due on GCH1 loss-of-function mutationVery important
- rs104894436A;CGCH1-deficient dopa-responsive dystonia (likely)Very important
- rs104894437A;Tdystonia due on GCH1 loss-of-function mutationVery important
- rs104894438C;Tdystonia due on GCH1 loss-of-function mutationVery important
- rs104894439C;Gdystonia due on GCH1 loss-of-function mutationVery important
- rs104894440G;Tdystonia due on GCH1 loss-of-function mutationVery important
- rs104894441A;Tdystonia due on GCH1 loss-of-function mutationVery important
Notes
From SNPedia
Notes
Also known as c.671A>G, Lys224Arg or K224R; the G allele is associated with Dopa-Responsive Dystonia. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
C;T
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.
C;C
The degree of dystonia may vary; see the SNPedia GCH1 page for discussion.
Source and license
Adapted from rs41298442 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.