rs147394623(G;G)
From SNPedia
| Retinitis pigmentosa, type 59 |
| Is a | genotype |
| of | rs147394623 |
| Gene | DHDDS |
| Chromosome | 1 |
| Position | 26,438,228 |
| mentioned | by |
| Magnitude | 4.4 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a retinitis pigmentosa (RP) mutation |
| (G;G) | 4.4 | Retinitis pigmentosa, type 59 |
See discussion at rs147394623 and about retinitis pigmentosa. Otherwise quite rare, this mutation is considered a founder mutation among the Ashkenazi Jewish population.
