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: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
dbSNP: rs121909324
rs121909324
CACNA1A
4 0.851 0.160 19 13255217 stop gained G/A snv 0.700 0
dbSNP: rs121909326
rs121909326
CACNA1A
3 0.882 0.160 19 13235219 missense variant A/G snv 0.700 0
dbSNP: rs1555767914
rs1555767914
CACNA1A
1 1.000 0.080 19 13335828 missense variant G/A snv 0.700 0
dbSNP: rs794727411
rs794727411
CACNA1A
5 0.851 0.160 19 13261526 missense variant C/G;T snv 0.700 0
dbSNP: rs886037945
rs886037945
CACNA1A
6 0.827 0.160 19 13303584 missense variant C/T snv 0.700 0
dbSNP: rs1026872132
rs1026872132
CACNA1A
1 1.000 0.080 19 13234934 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121918613
rs121918613
ATP1A2
2 0.925 0.080 1 160128667 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs121918616
rs121918616
ATP1A2
3 0.882 0.080 1 160130283 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121918632
rs121918632
SCN1A ; SCN1A-AS1 ; LOC102724058
5 0.851 0.120 2 165996099 missense variant A/G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs1402027664
rs1402027664
CACNA1A
2 0.925 0.080 19 13312697 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs28933401
rs28933401
ATP1A2
3 0.882 0.120 1 160135246 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs376885324
rs376885324
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.080 2 165996096 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs41276886
rs41276886
CACNA1A
2 0.925 0.080 19 13317310 missense variant C/T snv 4.5E-03 4.4E-03 0.010 1.000 1 2010 2010
dbSNP: rs746795369
rs746795369
ATP1A2
6 0.827 0.080 1 160139969 missense variant C/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs759252101
rs759252101
CACNA1A
1 1.000 0.080 19 13212143 missense variant C/G snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs768048563
rs768048563
CACNA1A
2 0.925 0.120 19 13298829 missense variant C/T snv 2.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs886039322
rs886039322
CACNA1A
2 1.000 0.080 19 13312778 missense variant T/C snv 8.9E-06 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs121918628
rs121918628
SCN1A ; SCN1A-AS1 ; LOC102724058
5 0.851 0.080 2 165998049 missense variant G/T snv 0.020 1.000 2 2008 2013
dbSNP: rs28933400
rs28933400
ATP1A2
3 0.882 0.080 1 160135510 missense variant T/C snv 0.020 1.000 2 2003 2004
dbSNP: rs1553245943
rs1553245943
ATP1A2
2 1.000 0.080 1 160137001 missense variant G/A snv 0.700 1.000 4 2008 2017
dbSNP: rs121908217
rs121908217
CACNA1A
9 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.800 1.000 10 1996 2017
dbSNP: rs121908218
rs121908218
CACNA1A
2 0.925 0.080 19 13303576 missense variant G/A;C;T snv 0.800 1.000 10 1996 2017
dbSNP: rs121908219
rs121908219
CACNA1A
1 1.000 0.080 19 13261552 missense variant T/C snv 0.800 1.000 10 1996 2017