rs80338802, CAPN3

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Limb-girdle muscular dystrophy type 2A
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
146 0.925 0.120 15 42410926 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.810 1.000 16 1995 2017
Absence of muscle
CUI: C1456418
Disease: Absence of muscle
2 0.925 0.120 15 42410926 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.010 1.000 1 2003 2003