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rs119103255(C;T)

From SNPedia
(Redirected from I5005804(A;G))
Carrier of a McArdle disease mutation
Is agenotype
ofrs119103255
GenePYGM
Chromosome11
Position64,751,966
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a McArdle disease mutation
(T;T) 5 McArdle disease (also known as glycogen storage disease type V)

Unaffected in absence of a second mutation in the PYGM gene