rs111033367
A SNP in the USH2A gene on chromosome 1. Its most notable genotype is -;-: Usher syndrome, type 2A
- Gene
- USH2A
- Location
- Chr 1216,190,280 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBadUsher syndrome, type 2A
- -;CTBadCarrier of an Usher syndrome type 2A mutation
- CT;CTGoodcommon in clinvar
On SNPedia: (-;-), (-;CT), (CT;CT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
aka c.4338_4339delCT (p.Cys1447Glnfs) This mutation in the USH2A gene is the major cause of Usher syndrome type 2a in Canadians of French origin (and is therefore considered a founder mutation in that population). {{PMID|18665195|OA=1]] Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
-;-
See links via main rs-page.
-;CT
Unaffected in absence of a second mutation in the USH2A gene; see links via main rs-page.
Source and license
Adapted from rs111033367 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.