rs80356688(C;T)
From SNPedia
Myotonia congenita; quite variable in degree |
Is a | genotype |
of | rs80356688 |
Gene | CLCN1 |
Chromosome | 7 |
Position | 143,324,486 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Myotonia congenita; quite variable in degree |
(T;T) | 6 | Myotonia congenita; quite variable in degree |
see discussion at myotonia congenita