rs28938473(C;T)
From SNPedia
| Carrier of a mutation for a type of Stargardt disease |
| Is a | genotype |
| of | rs28938473 |
| Gene | ABCA4 |
| Chromosome | 1 |
| Position | 94,007,731 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a mutation for a type of Stargardt disease |
| (T;T) | 5 | Fundus flavimaculatus, a type of Stargardt disease, likely |
Unaffected in absence of another pathogenic mutation in the ABCA4 gene; the minor allele in this genotype is reported as pathogenic for Fundus flavimaculatus, a type of Stargardt disease.
