rs147394623(A;G)
From SNPedia
Carrier of a retinitis pigmentosa (RP) mutation |
Is a | genotype |
of | rs147394623 |
Gene | DHDDS |
Chromosome | 1 |
Position | 26,438,228 |
mentioned | by |
Magnitude | 3 |
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 |
Unaffected in absence of another DHDDS gene mutation; see discussion at rs147394623.