CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Muscle weakness of limb ×
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: rs778768583
rs778768583 		0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886042108
rs886042108 		0.851 0.120 15 42409930 splice acceptor variant G/C;T snv
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0