rs28931594
A SNP in the GJB2 gene on chromosome 13. Its most notable genotype is T;T: Deafness and keratitis; possible dominant or recessive
- Gene
- GJB2
- Location
- Chr 1320,189,434 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadDeafness and keratitis; possible dominant or recessive
- C;TBadDeafness and keratitis; possible dominant or recessive
- C;CGoodcommon in clinvar
- A;CBadDeafness and keratitis; possible dominant or recessive
- A;ABadDeafness and keratitis; possible dominant or recessive
SNPedia records rs28931594 on the minus strand: (A;A), (A;G), (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other GJB2 SNPs
- i4000435D;Ddeafness-associatedVery important
- rs28929485A;GDeafness and keratitis; possible dominant or recessiveVery important
- rs28931593C;TPalmoplantar keratoderma with deafnessVery important
- rs72561723T;TDeafness and keratitis; possible dominant or recessiveVery important
- rs80338939-;-deafness associatedVery important
- rs80338942-;-deafness associatedVery important
- rs80338943-;-deafness associatedVery important
- rs104894404C;TNonsyndromic hearing loss and deafnessVery important
Notes
From SNPedia
Notes
This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome. Note that there are two variants known at this locus: c.148G>A (Asp50Asn or D50N) and c.148G>T (Asp50Tyr or D50Y). The D50N form is the one primarily discussed in OMIM and the literature, and is also the form tested by 23andMe under their "secret" name, i6011365. The D50Y form is cited in ClinVar, referencing OMIM but not actually discussed there.
T;T
see discussion at rs28931594
C;T
see discussion at rs28931594
A;C
see discussion at rs28931594
A;A
see discussion at rs28931594
Source and license
Adapted from rs28931594 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.