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: rs12720458
rs12720458
KCNQ1
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
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 2008 2010
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2008 2010
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2008 2010
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.020 1.000 2 2016 2017
dbSNP: rs41261344
rs41261344
SCN5A
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.050 1.000 5 2006 2019
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.020 1.000 2 2003 2004
dbSNP: rs1805128
rs1805128
KCNE1
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.750 1.000 9 2000 2018
dbSNP: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.030 1.000 3 2000 2014
dbSNP: rs199472709
rs199472709
KCNQ1
7 0.790 0.120 11 2572021 missense variant G/A;T snv 0.700 1.000 7 2004 2015
dbSNP: rs120074193
rs120074193
KCNQ1
7 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.700 1.000 13 1997 2015
dbSNP: rs12720459
rs12720459
KCNQ1
7 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.770 1.000 13 1996 2019
dbSNP: rs199472795
rs199472795
KCNQ1
6 0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 0.710 1.000 12 2000 2015
dbSNP: rs74315445
rs74315445
KCNE1
6 0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05 0.710 1.000 12 1997 2014
dbSNP: rs79891110
rs79891110
CACNA1C
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.710 1.000 12 2004 2016
dbSNP: rs397508097
rs397508097
KCNQ1
6 0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05 0.700 1.000 9 2001 2014
dbSNP: rs17215500
rs17215500
KCNQ1
7 0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 0.720 1.000 8 1999 2015
dbSNP: rs137854600
rs137854600
SCN5A
6 0.807 0.120 3 38551504 missense variant C/A;T snv 0.040 1.000 4 1998 2004
dbSNP: rs72546668
rs72546668
CAV3 ; SSUH2
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.020 0.500 2 2013 2017
dbSNP: rs16847548
rs16847548 		8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs267607277
rs267607277
CALM1
6 0.807 0.120 14 90404386 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs398124647
rs398124647
CALM2
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs786205745
rs786205745
CACNA1C
6 0.807 0.320 12 2504538 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs199472687
rs199472687
KCNQ1
5 0.827 0.120 11 2527962 missense variant G/A snv 0.700 1.000 7 2005 2015
dbSNP: rs151344631
rs151344631
KCNQ1
5 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 0.730 1.000 6 2008 2018