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rs119103253(A;G)

From SNPedia
Carrier of a McArdle disease mutation
Is agenotype
ofrs119103253
GenePYGM
Chromosome11
Position64,751,331
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 5 McArdle disease (also known as glycogen storage disease type V)
(A;G) 3 Carrier of a McArdle disease mutation
(G;G) 0 common in clinvar

Unaffected in absence of a second mutation in the PYGM gene