rs587777466

A SNP in the VPS53 gene on chromosome 17. Its most notable genotype is A;A: Pontocerebellar hypoplasia type 2E

Gene
VPS53
Location
Chr 17562,498 (GRCh38)
Highest magnitude
9.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier of a Pontocerebellar hypoplasia type 2E mutationImportant · 3.0
  3. C;CGoodcommon in clinvarTypical · 0.0
  4. A;AMost notableBadPontocerebellar hypoplasia type 2EVery important · 9.0

SNPedia records rs587777466 on the minus strand: (C;C), (C;T), (G;G), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other VPS53 SNPs

All VPS53 SNPs

Notes

From SNPedia

Notes

VPS53 mutation, known as c.1556+5G>A, leading to Pontocerebellar hypoplasia type 2E

A;G

Unaffected carrier in absence of a second mutation; see VPS53 gene and Pontocerebellar hypoplasia type 2E.

A;A

see Pontocerebellar hypoplasia type 2E and VPS53 gene

Source and license

Adapted from rs587777466 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.