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: rs149144720
rs149144720
ATP1A2
1 1.000 0.040 1 160136570 missense variant G/A snv 0.700 1.000 3 2009 2014
dbSNP: rs1553245857
rs1553245857
ATP1A2
1 1.000 0.040 1 160136370 missense variant G/A snv 0.700 1.000 2 2009 2014
dbSNP: rs1553245771
rs1553245771
ATP1A2
3 0.882 0.040 1 160135461 missense variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1165052640
rs1165052640
ATP1A2
1 1.000 0.040 1 160129024 stop gained C/T snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs121918615
rs121918615
ATP1A2
2 0.925 0.040 1 160139735 missense variant C/T snv 0.700 0
dbSNP: rs1226796744
rs1226796744
ATP1A2
1 1.000 0.040 1 160139675 missense variant C/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1558008759
rs1558008759
ATP1A2
1 1.000 0.040 1 160135988 missense variant G/C snv 0.700 0
dbSNP: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.040 1.000 4 2008 2011
dbSNP: rs121908211
rs121908211
CACNA1A
5 0.882 0.080 19 13371744 missense variant C/T snv 0.030 1.000 3 2005 2015
dbSNP: rs121908212
rs121908212
CACNA1A
14 0.732 0.160 19 13303877 missense variant G/A snv 0.030 1.000 3 1999 2019
dbSNP: rs121908214
rs121908214
CACNA1A
4 0.925 0.080 19 13230185 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs121908218
rs121908218
CACNA1A
2 0.925 0.080 19 13303576 missense variant G/A;C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs121908223
rs121908223
CACNA1A
2 0.925 0.080 19 13262823 missense variant T/C snv 0.010 1.000 1 2013 2013
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: rs28933400
rs28933400
ATP1A2
3 0.882 0.080 1 160135510 missense variant T/C snv 0.010 1.000 1 2004 2004
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