rs104894404(C;G)
From SNPedia
Palmoplantar keratoderma with deafness |
Is a | genotype |
of | rs104894404 |
Gene | GJB2 |
Chromosome | 13 |
Position | 20,189,406 |
mentioned | by |
Magnitude | 6 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Nonsyndromic hearing loss and deafness |
(C;G) | 6 | Palmoplantar keratoderma with deafness |
(G;G) | 0 | common in clinvar |
see discussion at Keratoderma_palmoplantar_deafness