rs116840795, CAV3;SSUH2

N. diseases: 2
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
CUI: C0023976
Disease: Long QT Syndrome
349 1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2004 2017
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0