Gene: CACNA1C ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs79891110
rs79891110
CACNA1C
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.710 1.000 12 2004 2016
dbSNP: rs786205748
rs786205748
CACNA1C
1 1.000 0.120 12 2566465 missense variant C/T snv 0.710 1.000 2 2015 2019
dbSNP: rs750835733
rs750835733
CACNA1C
1 1.000 0.120 12 2593252 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 2013 2013
dbSNP: rs587782933
rs587782933
CACNA1C
5 0.827 0.200 12 2504526 missense variant G/A snv 0.700 1.000 6 2005 2016
dbSNP: rs1343191564
rs1343191564
CACNA1C ; CACNA1C-AS1
1 1.000 0.120 12 2688616 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs377564636
rs377564636
CACNA1C ; CACNA1C-AS1
1 1.000 0.120 12 2679529 missense variant G/A snv 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs749945590
rs749945590
CACNA1C ; CACNA1C-AS1
1 1.000 0.120 12 2688601 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs786205745
rs786205745
CACNA1C
6 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2016 2016