CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Muscular Dystrophies, Limb-Girdle ×
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: rs199806879
rs199806879 		0.925 0.120 15 42408227 missense variant C/T snv 4.4E-05 3.5E-05
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs750083132
rs750083132 		1.000 0.120 15 42410633 missense variant A/G snv 8.0E-06
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs779139238
rs779139238 		15 42408301 missense variant G/T snv 8.0E-06
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007