rs587777490(C;T)
From SNPedia
Carrier of a pathogenic mutation for osteopetrosis |
Is a | genotype |
of | rs587777490 |
Gene | SNX10 |
Chromosome | 7 |
Position | 26,360,996 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a pathogenic mutation for osteopetrosis |
(T;T) | 5.8 | Osteopetrosis, type 8 |
Unaffected in absence of a second mutation in the SNX10 gene