rs786205745, CACNA1C

N. diseases: 6
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.
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
9 0.807 0.320 12 2504538 missense variant G/A;C snv 0.730 1.000 4 2004 2015
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2015 2015
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
14 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2016 2016
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2016 2016
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2013 2013
Timothy syndrome type 2
CUI: C4304347
Disease: Timothy syndrome type 2
4 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2015 2015