rs587782933, CACNA1C

N. diseases: 5
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 0.827 0.200 12 2504526 missense variant G/A snv 0.700 1.000 6 2005 2016
Paroxysmal familial ventricular fibrillation
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
5 0.827 0.200 12 2504526 missense variant G/A snv 0.700 0
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.827 0.200 12 2504526 missense variant G/A snv 0.010 1.000 1 2015 2015
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
9 0.827 0.200 12 2504526 missense variant G/A snv 0.010 1.000 1 2013 2013
Timothy syndrome type 2
CUI: C4304347
Disease: Timothy syndrome type 2
4 0.827 0.200 12 2504526 missense variant G/A snv 0.010 1.000 1 2015 2015