rs121965031(C;T)
From SNPedia
Carrier of a mucopolysaccharidosis type 1 mutation |
Is a | genotype |
of | rs121965031 |
Gene | IDUA |
Chromosome | 4 |
Position | 1,004,286 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mucopolysaccharidosis type 1 mutation |
Unaffected in absence of a second IDUA gene mutation