rs104894408
A SNP in the GJB2 gene on chromosome 13. Its most notable genotype is G;G: Deafness and keratitis; possible dominant or recessive
- Gene
- GJB2
- Location
- Chr 1320,189,548 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadDeafness and keratitis; possible dominant or recessive
- C;GBadDeafness and keratitis; possible dominant or recessive
- C;CGoodcommon in clinvar
SNPedia records rs104894408 on the minus strand: (C;C), (C;G), (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
- rs28931593C;TPalmoplantar keratoderma with deafnessVery 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
Notes
From SNPedia
Notes
This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.
G;G
see discussion at rs104894408
C;G
see discussion at rs104894408
Source and license
Adapted from rs104894408 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.