rs111033212(C;T)
From SNPedia
| Carrier of a Pendred syndrome (deafness) mutation |
| Is a | genotype |
| of | rs111033212 |
| Gene | SLC26A4 |
| Chromosome | 7 |
| Position | 107,689,054 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5 | Pendred Syndrome (deafness) |
| (C;T) | 3 | Carrier of a Pendred syndrome (deafness) mutation |
| (T;T) | 0 | common in clinvar |
Unaffected in absence of another pathogenic mutation in the SLC26A4 gene; see rs111033212
