rs80338903

A SNP in the USH2A gene on chromosome 1. Its most notable genotype is -;C: Carrier of an Usher syndrome type II mutation

Gene
USH2A
Location
Chr 1216,247,095 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. -;CMost notableBadCarrier of an Usher syndrome type II mutationImportant · 3.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs80338903 on the minus strand: (-;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other USH2A SNPs

All USH2A SNPs

Notes

From SNPedia

Notes

aka c.2299delG (p.Glu767Serfs) Annotated in ClinVar as pathogenic for Usher syndrome type II, atypical Usher syndrome, and non-syndromic autosomal recessive retinitis pigmentosa. This mutation is one of the most common pathogenic mutations in the USH2A gene, accounting for 16%-44% of such mutations.

-;C

Unaffected in absence of a second USH2A gene mutation; see text and links via main rs-page.

Source and license

Adapted from rs80338903 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.