rs28937594(C;T)
From SNPedia
Carrier of one inclusion body myopathy mutation |
Is a | genotype |
of | rs28937594 |
Gene | GNE |
Chromosome | 9 |
Position | 36,217,399 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 6 | Inclusion Body Myopathy, type 2 |
(C;T) | 3 | Carrier of one inclusion body myopathy mutation |
(T;T) | 0 | common in clinvar |
Unaffected in absence of a second GNE gene mutation; see discussion at rs28937594