rs111033334

A SNP in the USH2A gene on chromosome 1. Its most notable genotype is A;A: Usher syndrome type IIa; Retinitis pigmentosa 39 (predicted)

Gene
USH2A
Location
Chr 1216,247,185 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadCarrier of an Usher syndrome type IIa mutationImportant · 3.0
  3. A;AMost notableBadUsher syndrome type IIa; Retinitis pigmentosa 39 (predicted)Very important · 5.0

SNPedia records rs111033334 on the minus strand: (C;C), (C;T), (T;T). 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.2209C>T (p.Arg737Ter or R737X) Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

A;G

Unaffected in absence of a second USH2A gene mutation; may also be known as retinitis pigmentosa 39

A;A

see text and links via main rs-page

Source and license

Adapted from rs111033334 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.