rs864309483

A SNP in the ADCY5 gene on chromosome 3. Its most notable genotype is A;G: Dyskinesia, familial, with facial myokymia

Gene
ADCY5
Location
Chr 3123,352,464 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadDyskinesia, familial, with facial myokymiaVery important · 6.0

SNPedia records rs864309483 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other ADCY5 SNPs

All ADCY5 SNPs

Notes

From SNPedia

Notes

aka c.1252C>T (p.Arg418Trp or R418W) considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant familial dyskinesia, with facial myokymia see also OMIM 600293.0002

A;G

see text and links via main rs-page

Source and license

Adapted from rs864309483 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.