rs121912801(T;T)
From SNPedia
Myotonia congenita; quite variable in degree |
Is a | genotype |
of | rs121912801 |
Gene | CLCN1 |
Chromosome | 7 |
Position | 143,339,527 |
mentioned | by |
Magnitude | 6 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 2.5 | carrier of a myotonia congenita allele; variable in degree |
(T;T) | 6 | Myotonia congenita; quite variable in degree |
See discussion at myotonia congenita