rs267606812(A;T)
From SNPedia
Carrier of an Emery-Dreifuss muscular dystrophy mutation |
Is a | genotype |
of | rs267606812 |
Gene | FHL1 |
Chromosome | X |
Position | 136,207,828 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 3 | Carrier of an Emery-Dreifuss muscular dystrophy mutation |
(T;T) | 6.4 | Emery-Dreifuss Muscular Dystrophy |
Unaffected in absence of a second FHL1 gene mutation