CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Skeletal muscle atrophy ×
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: rs758058910
rs758058910 		1.000 0.120 15 42360096 missense variant C/A;T snv 4.0E-06 1.4E-05
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0
dbSNP: rs768090444
rs768090444 		1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0