rs72546668, SSUH2;CAV3

N. diseases: 8
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.
LONG QT SYNDROME 9 (disorder)
CUI: C2678485
Disease: LONG QT SYNDROME 9 (disorder)
6 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.800 0
LONG QT SYNDROME 2/9, DIGENIC
CUI: C3279093
Disease: LONG QT SYNDROME 2/9, DIGENIC
2 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.700 0
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.700 0
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.020 0.500 2 2013 2017
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.010 1.000 1 2017 2017
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
37 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.010 1.000 1 2008 2008
Proximal myopathy
CUI: C0410198
Disease: Proximal myopathy
4 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.010 1.000 1 2012 2012
Rippling muscle disease
CUI: C1853698
Disease: Rippling muscle disease
6 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.010 1.000 1 2012 2012