Disease: Timothy syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044881
rs797044881
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease:
Timothy syndrome 		0.010 GeneticVariation BEFREE Whole exome sequencing revealed a novel CACNA1C mutation, p.Ile1166Thr, in a young male with diagnosed TS. 25260352 2015