rs587781220

A SNP in the UBE3A gene on chromosome 15. Its most notable genotype is A;C: Likely miscall if from Ancestry v2 or LivingDNA data, and now probably 23andMe v5 data also; otherwise, Angelmann mutation

Gene
UBE3A
Location
Chr 1525,354,402 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. A;CMost notableBadLikely miscall if from Ancestry v2 or LivingDNA data, and now probably 23andMe v5 data also; otherwise, Angelmann mutationImportant · 3.0

SNPedia records rs587781220 on the minus strand: (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.2245G>T (p.Glu749Ter or E749X)

A;C

The quite rare minor allele is seen in Ancestry and LivingDNA data at rates very likely to indicate a technical error. If your data is not from either of these companies, please contact us.

Source and license

Adapted from rs587781220 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.