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rs28937594(C;T)

From SNPedia
Carrier of one inclusion body myopathy mutation
Is agenotype
ofrs28937594
GeneGNE
Chromosome9
Position36,217,399
mentionedby
Magnitude3
ReputeBad
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