PFKM, phosphofructokinase, muscle, 5213

N. diseases: 58; N. variants: 14
Disease: Rhabdomyolysis ×
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: rs202143236
rs202143236 		1.000 0.160 12 48131394 splice donor variant G/A snv 1.3E-04; 4.0E-06 6.3E-05
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017