rs104894444
A SNP in the GCH1 gene on chromosome 14. Its most notable genotype is A;G: dystonia due on GCH1 loss-of-function mutation
- Gene
- GCH1
- Location
- Chr 1454,902,522 (GRCh38)
- Highest magnitude
- 4.4Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableBaddystonia due on GCH1 loss-of-function mutation
SNPedia records rs104894444 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
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
aka c.142C>T (p.Gln48Ter, Q48X or Q48*) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant Dystonia 5, Dopa-responsive type. However, note that OMIM indicates some individuals carrying this mutation are reported to be asymptomatic. See also OMIM 600225.0018
A;G
The degree of dystonia may vary; see the discussion on the SNPedia GCH1 webpage.
Source and license
Adapted from rs104894444 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.