rs863225082

A SNP in the PPP2R5D gene on chromosome 6. Its most notable genotype is A;G: Neurodevelopmental disorder-associated mutation

Gene
PPP2R5D
Location
Chr 643,007,265 (GRCh38)
Highest magnitude
8.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadNeurodevelopmental disorder-associated mutationVery important · 8.0
  2. G;GGoodcommon in clinvarTypical · 0.0

On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other PPP2R5D SNPs

All PPP2R5D SNPs

Notes

From SNPedia

Notes

PPP2R5D gene, aka c.592G>A, p.Glu198Lys and E198K Considered to be a de novo (dominant) missense variant associated with intellectual disability, macrocephaly, hypotonia, and autism; see ClinVar and as well as links on PPP2R5D page

A;G

see links on main SNP page and at PPP2R5D gene page

Source and license

Adapted from rs863225082 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.