rs1555421871, CAPN3

N. diseases: 6
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.
Contractures of the joints of the lower limbs
3 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 0
Electrocardiogram change
CUI: C0855329
Disease: Electrocardiogram change
27 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 0
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 0
Limb-girdle muscular dystrophy type 2A
146 0.882 0.120 15 42399617 frameshift variant G/- delins 0.700 1.000 5 2005 2015