Gene: CACNA1C ×
Source: CURATED ×
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
7 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 0.964 5 2008 2019
dbSNP: rs4765913
rs4765913
CACNA1C
1 1.000 0.040 12 2310730 intron variant A/T snv 0.82 0.810 1.000 3 2011 2017
dbSNP: rs10744560
rs10744560
CACNA1C ; CACNA1C-IT3
3 0.882 0.040 12 2277933 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10774037
rs10774037
CACNA1C
3 0.882 0.040 12 2311360 intron variant G/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs10848642
rs10848642
CACNA1C ; CACNA1C-AS4
1 1.000 0.040 12 2222406 non coding transcript exon variant A/G snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs4765914
rs4765914
CACNA1C
2 0.925 0.040 12 2311211 intron variant T/C;G snv 0.700 1.000 1 2019 2019