Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80315385
rs80315385
CACNA1C
0.882 0.200 12 2504932 missense variant G/A snv
CUI: C4304347
Disease: Timothy syndrome type 2
Timothy syndrome type 2 		0.010 1.000 1 2015 2015