rs796065306
A SNP in the ADCY5 gene on chromosome 3. Its most notable genotype is C;T: Dyskinesia, familial, with facial myokymia
- Gene
- ADCY5
- Location
- Chr 3123,319,754 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs796065306 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
rs796065306, also known as c.2176G>A, p.Ala726Thr and A726T, represents a mutation in the ADCY5 gene on chromosome 3. The very rare rs796065306(A) allele is reported to be an autosomally dominant mutation leading to ADCY5-related dyskinesia disorder. See the discussion at ADCY5. Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant familial dyskinesia, with facial myokymia. See also OMIM 600293.0001
C;T
see discussion at rs796065306 and at ADCY5
Source and license
Adapted from rs796065306 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.