rs200692438(A;C)
From SNPedia
Carrier of a mutation for Stargardt disease |
Is a | genotype |
of | rs200692438 |
Gene | ABCA4 |
Chromosome | 1 |
Position | 94,060,733 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 3 | Carrier of a mutation for Stargardt disease |
Unaffected in absence of another pathogenic ABCA4 gene mutation