rs114925667

A SNP in the UBA5 gene on chromosome 3. Its most notable genotype is A;A: early infantile epileptic encephalopathy-44

Gene
UBA5
Location
Chr 3132,675,903 (GRCh38)
Highest magnitude
9.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadearly infantile epileptic encephalopathy-44Very important · 9.0
  2. A;GBadCarrier of an early infantile epileptic encephalopathy mutationImportant · 3.0
  3. G;GGoodcommon/normalTypical · 0.0

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

Other UBA5 SNPs

All UBA5 SNPs

Notes

From SNPedia

Notes

UBA5 gene, c.1111G>A (p.Ala371Thr) pathogenic for early infantile epileptic encephalopathy-44

A;A

see discussion

A;G

Unaffected unless carrying another pathogenic mutation in UBA5 gene

Source and license

Adapted from rs114925667 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.