rs80356706(C;C)
From SNPedia
common in clinvar |
Is a | genotype |
of | rs80356706 |
Gene | CLCN1 |
Chromosome | 7 |
Position | 143,351,793 |
Merged from | Rs121912808 |
mentioned | by |
Magnitude | 0 |
Repute | Good |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 2.5 | carrier of a myotonia congenita allele; variable in degree |
(T;T) | 6 | Myotonia congenita; quite variable in degree |