rs768090444, CAPN3

N. diseases: 3
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 1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05 0.700 1.000 1 2005 2005
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05 0.700 0
Skeletal muscle atrophy
CUI: C0541794
Disease: Skeletal muscle atrophy
12 1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05 0.700 0