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: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 0.917 12 2010 2016
dbSNP: rs10774037
rs10774037
CACNA1C
3 0.882 0.040 12 2311360 intron variant G/A snv 0.77 0.800 1.000 2 2013 2019
dbSNP: rs4765914
rs4765914
CACNA1C
2 0.925 0.040 12 2311211 intron variant T/C;G snv 0.800 1.000 2 2013 2019
dbSNP: rs4765905
rs4765905
CACNA1C
6 0.827 0.040 12 2240418 intron variant G/A;C snv 0.710 1.000 2 2011 2016
dbSNP: rs10744560
rs10744560
CACNA1C ; CACNA1C-IT3
3 0.882 0.040 12 2277933 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10774035
rs10774035
CACNA1C
2 0.925 0.040 12 2259508 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10774036
rs10774036
CACNA1C ; CACNA1C-IT3
1 1.000 0.040 12 2277782 intron variant C/T snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs11062170
rs11062170
CACNA1C
1 1.000 0.040 12 2239678 intron variant G/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs12315711
rs12315711
CACNA1C
1 1.000 0.040 12 2237664 intron variant T/A snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs12424245
rs12424245
CACNA1C
1 1.000 0.040 12 2213347 intron variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs1860002
rs1860002
CACNA1C
1 1.000 0.040 12 2304637 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2007044
rs2007044
CACNA1C
6 0.882 0.040 12 2235794 intron variant A/G snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs2159100
rs2159100
CACNA1C
2 0.925 0.040 12 2237227 intron variant C/A;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2370413
rs2370413
CACNA1C
1 1.000 0.040 12 2245704 intron variant T/C snv 0.59 0.700 1.000 1 2011 2011
dbSNP: rs4298967
rs4298967
CACNA1C
1 1.000 0.040 12 2299028 intron variant A/G snv 0.74 0.700 1.000 1 2011 2011
dbSNP: rs4765904
rs4765904
CACNA1C ; CACNA1C-AS4
1 1.000 0.040 12 2223227 intron variant A/C snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs7297582
rs7297582
CACNA1C
2 0.925 0.040 12 2246640 intron variant C/T snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs758170
rs758170
CACNA1C
1 1.000 0.040 12 2252294 intron variant C/G;T snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs769087
rs769087
CACNA1C
1 1.000 0.040 12 2235478 intron variant G/A snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs2239073
rs2239073
CACNA1C
1 1.000 0.040 12 2429334 intron variant T/C snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs4765937
rs4765937
CACNA1C
1 1.000 0.040 12 2461369 intron variant T/C snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs794727961
rs794727961
CACNA1C
5 0.851 0.080 12 2512979 missense variant G/A snv 0.010 1.000 1 2010 2010