rs111033334(C;T)
From SNPedia
| Carrier of an Usher syndrome type IIa mutation |
| Is a | genotype |
| of | rs111033334 |
| Gene | USH2A |
| Chromosome | 1 |
| Position | 216,247,185 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an Usher syndrome type IIa mutation |
| (T;T) | 5 | Usher syndrome type IIa; Retinitis pigmentosa 39 (predicted) |
Unaffected in absence of a second USH2A gene mutation; may also be known as retinitis pigmentosa 39
