rs104894412
A SNP in the GJB2 gene on chromosome 13. Its most notable genotype is G;T: knuckle pads, leukonychia, and deafness
- Gene
- GJB2
- Location
- Chr 1320,189,420 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;TMost notableBadknuckle pads, leukonychia, and deafness
- G;GGoodcommon in clinvar
SNPedia records rs104894412 on the minus strand: (A;C), (C;C). 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
See OMIM for a description of Bart-Pumphrey syndrome, and OMIM 121011.0030 for a discussion of this particular mutation, associated with knuckle pads, leukonychia, and deafness.
G;T
see discussion at rs104894412
Source and license
Adapted from rs104894412 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.