rs111033220(C;T)
From SNPedia
Carrier of a mutation for Pendred syndrome (hearing loss) |
Is a | genotype |
of | rs111033220 |
Gene | SLC26A4 |
Chromosome | 7 |
Position | 107,690,203 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mutation for Pendred syndrome (hearing loss) |
(T;T) | 5 | Pendred syndrome (hearing loss) |
Unaffected in absence of another SLC26A4 gene mutation; see rs111033220