rs28939086(A;C)
From SNPedia
| Carrier of a Pendred Syndrome mutation |
| Is a | genotype |
| of | rs28939086 |
| Gene | SLC26A4 |
| Chromosome | 7 |
| Position | 107,690,220 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Carrier of a Pendred Syndrome mutation |
| (C;C) | 5 | Pendred Syndrome |
Unaffected in absence of a second SLC26A4 gene mutation
