Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205745
rs786205745
CACNA1C
CUI: C4304347
Disease: Timothy syndrome type 2
Timothy syndrome type 2 		0.010 GeneticVariation BEFREE An atypical form of Timothy syndrome type 2 (TS2) is caused by mutations in G406R and G402S in the alternatively spliced exon 8. 25691416

2015