rs80315385, CACNA1C

N. diseases: 3
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 0.882 0.200 12 2504932 missense variant G/A snv 0.710 1.000 1 2013 2013
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.882 0.200 12 2504932 missense variant G/A snv 0.010 1.000 1 2015 2015
Timothy syndrome type 2
CUI: C4304347
Disease: Timothy syndrome type 2
4 0.882 0.200 12 2504932 missense variant G/A snv 0.010 1.000 1 2015 2015