PFKM, phosphofructokinase, muscle, 5213

N. diseases: 58; N. variants: 14
Disease: Glycogen Storage Disease ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs767095759
rs767095759 		1.000 0.160 12 48145039 frameshift variant C/- delins 9.5E-05 4.9E-05
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1994 1997