rs730880056, CACNA1C

N. diseases: 1
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 1.000 0.200 12 2593261 missense variant G/A;C snv 1.2E-05 0.700 0