Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs116987552(A;G)

From SNPedia
(Redirected from I5012656(A;G))
Carrier of a McArdle disease mutation
Is agenotype
ofrs116987552
GenePYGM
Chromosome11
Position64,759,751
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