rs79891110, CACNA1C

N. diseases: 2
Source: CURATED ×
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
5 0.807 0.320 12 2504944 stop gained G/A;T snv 0.730 1.000 0 2011 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
245 0.807 0.320 12 2504944 stop gained G/A;T snv 0.710 1.000 11 2004 2016