Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation. 26822303

2016
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. 25691416

2015
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain. 23979604

2014
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2). 24773605

2014
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein. 21685391

2011
dbSNP: rs587782933
rs587782933
CACNA1C
A 0.700 CausalMutation CLINVAR Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612

2005