rs998259
A SNP in the GCH1 gene on chromosome 14. Its most notable genotype is C;C: common/normal
- Gene
- GCH1
- Location
- Chr 1454,888,313 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, FamilyTreeDNA
- Minor allele frequency
- 11%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 9 HapMap populations.
- AverageC;C 84%
- European ancestry (Utah)C;C 62%
- Han Chinese (Beijing)C;C 100%
- Japanese (Tokyo)C;C 100%
- Yoruba (Nigeria)C;C 100%
- African ancestry (Southwest US)C;C 88%
- Gujarati IndianC;C 91%
- Mexican ancestry (Los Angeles)C;C 57%
- Maasai (Kenya)C;C 96%
- TuscanC;C 65%
Related
Other GCH1 SNPs
- rs886039379-;ATDystonia, dopa-responsiveVery important
- rs41298442C;CDystonia (dopa-responsive) from homozygous GCH1 mutationVery 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
Notes
From SNPedia
Notes
Polymorphic Variation of the Guanosine Triphosphate Cyclohydrolase 1 Gene Predicts Outcome in Patients Undergoing Surgical Treatment for Lumbar Degenerative Disc Disease
Source and license
Adapted from rs998259 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.