Promethease 0.1.82

Rs10250779

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is asnp
is mentioned by
dbSNPrs10250779
hapmaprs10250779
hgdprs10250779
ensemblrs10250779
gopubmedrs10250779
scholarrs10250779
googlers10250779
pharmgkbrs10250779
hgvbaseg2prs10250779
medrefsnprs10250779
23andMers10250779
SNP Nexus

GenePGAM2
Chromosome7
Orientationplus
Position44071421
GenotypeEffect
rs10250779(C;C)normal
rs10250779(C;T)normal
rs10250779(T;T)possible exercise-inducing cramping in African-Americans


Genotypes Magnitude Summary
Rs10250779(C;C) normal
Rs10250779(C;T) normal
Rs10250779(T;T) possible exercise-inducing cramping in African-Americans
Several African-American rs10250779(T;T) homozygotes (as oriented in dbSNP) have been reported to experience intense muscle pain and cramps upon exercising. It is not known what percentage of such homozgyotes respond to exercise in this manner.[PMID 8447317]
  • related to MYOPATHY DUE TO DEFICIENCY OF MUSCLE PHOSPHOGLYCERATE MUTASE according to omim 261670.0001


? (T;T) (C;C) (C;T)
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