rs116840778, SSUH2;CAV3

N. diseases: 4
Source: CLINVAR ×
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)
8 0.882 0.200 3 8733956 missense variant G/A;C snv 0.800 1.000 14 2000 2011
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
42 0.882 0.200 3 8733956 missense variant G/A;C snv 0.800 0
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
245 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