rs121918419(C;T)
From SNPedia
Carrier of a mutation for glycogen storage disease type 0 |
Is a | genotype |
of | rs121918419 |
Gene | GYS2 |
Chromosome | 12 |
Position | 21,568,952 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mutation for glycogen storage disease type 0 |
(T;T) | 5 | Glycogen storage disease type 0 |
Unaffected in absence of another pathogenic mutation in the GYS2 gene; see rs121918419