CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
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: rs80338800
rs80338800
0.827 0.120 15 42387803 frameshift variant A/- delins
Congenital muscular dystrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0