rs104894867(C;G)
From SNPedia
| Carrier of a Norrie disease mutation |
| Is a | genotype |
| of | rs104894867 |
| Gene | NDP |
| Chromosome | X |
| Position | 43,949,932 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1 | Likely miscall in LivingDNA data |
| (C;G) | 3 | Carrier of a Norrie disease mutation |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of a second NDP gene mutation; note risk for sons due to X-linkage
