rs116840778, SSUH2;CAV3

N. diseases: 7
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)
14 0.882 0.200 3 8733956 missense variant G/A;C snv 0.800 1.000 14 2000 2011
Creatine phosphokinase serum increased
43 0.882 0.200 3 8733956 missense variant G/A;C snv 0.800 0
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.200 3 8733956 missense variant G/A;C snv 0.700 1.000 14 2000 2011
MYOPATHY, DISTAL, TATEYAMA TYPE
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
2 0.882 0.200 3 8733956 missense variant G/A;C snv 0.700 0
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
37 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2003 2003
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2010 2010
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.882 0.200 3 8733956 missense variant G/A;C snv 0.010 1.000 1 2010 2010