rs80315385, CACNA1C

N. diseases: 3
Disease: Timothy syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
0.710 GeneticVariation BEFREE Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). 23580742 2013
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
0.710 CausalMutation CLINVAR