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rs397514631(A;G)

From SNPedia
Carrier of a McArdle disease mutation
Is agenotype
ofrs397514631
GenePYGM
Chromosome11
Position64,759,747
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a McArdle disease mutation
(G;G) 5 McArdle disease (also known as glycogen storage disease type V)

Unaffected in absence of a second mutation in the PYGM gene