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: rs868064163
rs868064163
ACTL6A
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs5751876
rs5751876
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2016 2016
dbSNP: rs1047624774
rs1047624774
ATP2B4
2 1.000 0.120 1 203700807 missense variant T/C snv 4.0E-06 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs786205753
rs786205753
CACNA1C
3 0.925 0.080 12 2593255 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs11551437
rs11551437
CALM2
3 1.000 0.080 2 47161833 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs1287693879
rs1287693879
DNAH8
2 1.000 0.120 6 38737083 missense variant T/C snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs267606782
rs267606782
EMD
4 0.925 0.120 X 154379485 start lost A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1247665387
rs1247665387
FA2H
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs104894485
rs104894485
HCN4
4 0.882 0.080 15 73325378 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1805123
rs1805123
KCNH2
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.020 1.000 2 2011 2017
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2011 2017
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2011 2017
dbSNP: rs121912504
rs121912504
KCNH2
6 0.851 0.200 7 150951711 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1254179611
rs1254179611
KCNH2
3 1.000 0.120 7 150958295 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs199473012
rs199473012
KCNH2
2 1.000 0.120 7 150947708 missense variant G/C snv 2.6E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs587777907
rs587777907
KCNH2
2 1.000 0.120 7 150958319 missense variant T/A snv 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs762510312
rs762510312
KCNH2
3 0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1554430943
rs1554430943
KCNH2
4 0.925 0.160 7 150974821 missense variant C/T snv 0.700 0
dbSNP: rs104894585
rs104894585
KCNJ2
5 0.851 0.120 17 70175263 missense variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs199472730
rs199472730
KCNQ1
5 0.882 0.120 11 2572895 missense variant C/G;T snv 0.020 1.000 2 2011 2018
dbSNP: rs120074179
rs120074179
KCNQ1
3 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs120074193
rs120074193
KCNQ1
7 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs143149582
rs143149582
KCNQ1
1 11 2588801 missense variant C/A snv 4.0E-06 0.010 1.000 1 2010 2010