rs397518041

A SNP in the USH2A gene on chromosome 1. Its most notable genotype is C;T: Carrier of an Usher syndrome, type IIA variant

Gene
USH2A
Location
Chr 1215,845,898 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadCarrier of an Usher syndrome, type IIA variantImportant · 3.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs397518041 on the minus strand: (A;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.8981G>A (p.Trp2994Ter)

C;T

Unaffected in absence of a second USH2A gene mutation

Source and license

Adapted from rs397518041 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.