rs132630262(C;T)
From SNPedia
Carrier of an Emery-Dreifuss Muscular Dystrophy mutation |
Is a | genotype |
of | rs132630262 |
Gene | EMD |
Chromosome | X |
Position | 154,379,737 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of an Emery-Dreifuss Muscular Dystrophy mutation |
(T;T) | 6.4 | Emery-Dreifuss Muscular Dystrophy |
X-linked recessive, however, females may have some risk for cardiac and muscle problems