rs886039379
A SNP in the GCH1 gene on chromosome 14. Its most notable genotype is -;AT: Dystonia, dopa-responsive
- Gene
- GCH1
- Location
- Chr 1454,844,138 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;ATMost notableBadDystonia, dopa-responsive
- AT;ATGoodcommon in clinvar
On SNPedia: (-;AT), (AT;AT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other GCH1 SNPs
- 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
- rs104894441A;Tdystonia due on GCH1 loss-of-function mutationVery important
Notes
From SNPedia
Notes
aka c.631_632delAT (p.Met211Valfs) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant dopa-responsive dystonia.
-;AT
see text and links via main rs-page
Source and license
Adapted from rs886039379 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.