Source: ALL

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: rs587782933
rs587782933
CACNA1C
0.827 0.200 12 2504526 missense variant G/A snv
CUI: C4304347
Disease: Timothy syndrome type 2
Timothy syndrome type 2 		0.010 1.000 1 2015 2015
dbSNP: rs786205745
rs786205745
CACNA1C
0.807 0.320 12 2504538 missense variant G/A;C snv
CUI: C4304347
Disease: Timothy syndrome type 2
Timothy syndrome type 2 		0.010 1.000 1 2015 2015
dbSNP: rs79891110
rs79891110
CACNA1C
0.807 0.320 12 2504944 stop gained G/A;T snv
CUI: C4304347
Disease: Timothy syndrome type 2
Timothy syndrome type 2 		0.010 1.000 1 2015 2015
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