CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Absence of muscle ×
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: rs80338802
rs80338802 		0.925 0.120 15 42410926 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		0.010 1.000 1 2003 2003