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: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.030 1.000 3 2009 2018
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1164174661
rs1164174661
CACNA1A
3 0.925 0.120 19 13283358 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs121908217
rs121908217
CACNA1A
9 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121908230
rs121908230
CACNA1A
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
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: rs1253956567
rs1253956567
SCN1A ; SCN1A-AS1
2 1.000 0.040 2 166038072 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1345986424
rs1345986424
SLC2A1
4 0.851 0.160 1 42943291 stop gained C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs587777771
rs587777771
ATP1A3
4 0.851 0.240 19 41970275 missense variant C/T snv 0.010 1.000 1 2015 2015
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: rs763054302
rs763054302
CACNA1A
2 1.000 0.040 19 13299007 missense variant C/T snv 8.5E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs782461379
rs782461379
ATP1A3
3 0.882 0.120 19 41988511 missense variant G/A;C snv 8.0E-06; 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs782503624
rs782503624
ATP1A3
2 0.925 0.240 19 41970308 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015