rs786205745, CACNA1C

N. diseases: 1
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 2504538 missense variant G/A;C snv 0.730 1.000 1 2004 2015