rs118204448(G;T)
From SNPedia
Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation |
Is a | genotype |
of | rs118204448 |
Gene | GALNS |
Chromosome | 16 |
Position | 88,835,240 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation |
Unaffected in absence of a second GALNS gene mutation