CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Absent muscle fiber calpain-3 ×
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: rs201892814
rs201892814 		1.000 0.040 15 42403721 intron variant C/G snv 3.1E-03; 2.4E-05 3.1E-03
CUI: C4022625
Disease: Absent muscle fiber calpain-3
Absent muscle fiber calpain-3 		0.700 0
dbSNP: rs80338800
rs80338800 		0.827 0.120 15 42387803 frameshift variant A/- delins
CUI: C4022625
Disease: Absent muscle fiber calpain-3
Absent muscle fiber calpain-3 		0.700 0