rs398123011(A;G)
From SNPedia
Carrier of a pathogenic mutation for osteopetrosis |
Is a | genotype |
of | rs398123011 |
Gene | SNX10 |
Chromosome | 7 |
Position | 26,364,575 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5.8 | Osteopetrosis, type 8 |
(A;G) | 3 | Carrier of a pathogenic mutation for osteopetrosis |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second mutation in the SNX10 gene