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: rs987195
rs987195
MIR155HG
2 0.925 0.040 21 25565010 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057516085
rs1057516085
KCNQ2
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs117067974
rs117067974
KCNQ2
5 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs2071197
rs2071197
HNF4A
2 0.925 0.120 20 44401795 intron variant G/A snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2016 2016
dbSNP: rs74315390
rs74315390
KCNQ2
8 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs786205866
rs786205866
EEF1A2
7 0.807 0.160 20 63495062 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs730882200
rs730882200
ARFGEF2
3 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
dbSNP: rs730882210
rs730882210
MATN4
6 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0
dbSNP: rs121908225
rs121908225
CACNA1A
12 0.790 0.120 19 13365448 missense variant G/A snv 0.020 1.000 2 2009 2010
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121908230
rs121908230
CACNA1A
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs16969925
rs16969925
SCN1B
6 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs387907281
rs387907281
ATP1A3
13 0.752 0.280 19 41970284 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs59007384
rs59007384
TOMM40
4 0.851 0.080 19 44893408 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs72558028
rs72558028
SCN1B
1 1.000 0.040 19 35034060 missense variant G/A snv 1.4E-03 1.7E-03 0.010 1.000 1 2011 2011
dbSNP: rs7412
rs7412
APOE
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs80356537
rs80356537
ATP1A3
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs398122887
rs398122887
ATP1A3
8 0.790 0.280 19 41967744 missense variant C/G;T snv 0.700 0
dbSNP: rs11663316
rs11663316 		2 1.000 0.040 18 9027916 intergenic variant T/A snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs17084405
rs17084405 		2 1.000 0.040 18 71429162 intergenic variant G/A snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs970510
rs970510
LOC102725148
2 1.000 0.040 18 71812685 intergenic variant T/A snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs17679445
rs17679445
PNPO
2 0.925 0.160 17 47944699 missense variant G/A snv 5.5E-02 5.0E-02 0.010 1.000 1 2017 2017