rs778768583, CAPN3

N. diseases: 10
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
146 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 1.000 5 2005 2016
Contracture of joint of hand
CUI: C0158113
Disease: Contracture of joint of hand
5 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
Difficulty standing
CUI: C0241237
Disease: Difficulty standing
14 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
Generalized amyotrophy
CUI: C1389113
Disease: Generalized amyotrophy
6 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
Muscle weakness of limb
CUI: C0587246
Disease: Muscle weakness of limb
3 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
Proximal lower limb amyotrophy
CUI: C1836767
Disease: Proximal lower limb amyotrophy
4 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
Proximal muscle weakness in lower limbs
4 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
Proximal muscle weakness in upper limbs
3 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0