rs116840789, SSUH2;CAV3

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.
RIPPLING MUSCLE DISEASE 2 (disorder)
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
14 0.925 0.080 3 8745547 missense variant G/A;T snv 0.800 0
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 0.925 0.080 3 8745547 missense variant G/A;T snv 0.700 0
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
18 0.925 0.080 3 8745547 missense variant G/A;T snv 0.010 1.000 1 2016 2016
Muscle Cramp
CUI: C0026821
Disease: Muscle Cramp
8 0.925 0.080 3 8745547 missense variant G/A;T snv 0.010 1.000 1 2000 2000
Myalgia
CUI: C0231528
Disease: Myalgia
22 0.925 0.080 3 8745547 missense variant G/A;T snv 0.010 1.000 1 2000 2000
Rippling muscle disease
CUI: C1853698
Disease: Rippling muscle disease
6 0.925 0.080 3 8745547 missense variant G/A;T snv 0.010 1.000 1 2010 2010