rs118204444(C;T)
From SNPedia
| Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation |
| Is a | genotype |
| of | rs118204444 |
| Gene | GALNS |
| Chromosome | 16 |
| Position | 88,837,703 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation |
Unaffected in absence of a second GALNS gene mutation
