rs76157638(C;G)
From SNPedia
Carrier of a mutation for Stargardt disease |
Is a | genotype |
of | rs76157638 |
Gene | ABCA4 |
Chromosome | 1 |
Position | 94,051,698 |
Merged from | Rs121909203 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | Carrier of a mutation for Stargardt disease |
(G;G) | 6 | Stargardt disease |
Unaffected in absence of another pathogenic ABCA4 gene mutation; see rs76157638