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rs119103252(A;C)

From SNPedia
(Redirected from I5005800(G;T))
Carrier of a McArdle disease mutation
Is agenotype
ofrs119103252
GenePYGM
Chromosome11
Position64,752,064
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of a McArdle disease mutation
(C;C) 5 McArdle disease (also known as glycogen storage disease type V)

Unaffected in absence of a second mutation in the PYGM gene