rs28931593
A SNP in the GJB2 gene on chromosome 13. Its most notable genotype is C;T: Palmoplantar keratoderma with deafness
- Gene
- GJB2
- Location
- Chr 1320,189,358 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadPalmoplantar keratoderma with deafness
- G;GNot ratedNo summary available.
- C;CGoodcommon in clinvar
SNPedia records rs28931593 on the minus strand: (A;G), (C;C), (G;G). 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
- rs28931594T;TDeafness and keratitis; possible dominant or recessiveVery 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
deafness
C;T
see discussion at Keratoderma_palmoplantar_deafness, as well as GJB2 and deafness
Source and license
Adapted from rs28931593 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.