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: rs199473507
rs199473507
KCNH2
2 0.925 0.120 7 150952723 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2005 2005
dbSNP: rs199473447
rs199473447
KCNQ1
1 1.000 0.120 11 2445412 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121434386
rs121434386
SCN4B
2 0.925 0.120 11 118141265 missense variant G/A snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1480085793
rs1480085793
SCN5A
1 1.000 0.120 3 38620919 stop gained G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs151344631
rs151344631
KCNQ1
5 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 0.700 1.000 4 2008 2015
dbSNP: rs121434500
rs121434500
SNTA1
5 0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs199472960
rs199472960
KCNH2
1 1.000 0.120 7 150951496 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs199473103
rs199473103
SCN5A
3 0.925 0.120 3 38606102 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs199473522
rs199473522
KCNH2
3 0.882 0.120 7 150951583 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs554903493
rs554903493
SLCO6A1
2 1.000 0.120 5 102419940 missense variant G/A snv 8.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs397508091
rs397508091
KCNQ1 ; KCNQ1OT1
2 0.925 0.120 11 2662080 stop gained C/T snv 0.700 1.000 2 2009 2009
dbSNP: rs794728565
rs794728565
KCNQ1
3 0.882 0.120 11 2527943 frameshift variant G/- delins 0.700 1.000 1 2009 2009
dbSNP: rs199472944
rs199472944
KCNH2
3 0.882 0.120 7 150951552 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs16847548
rs16847548 		8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 < 0.001 1 2013 2013
dbSNP: rs1805128
rs1805128
KCNE1
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs199473051
rs199473051
SCN5A
2 0.925 0.120 3 38633058 missense variant C/T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs4657139
rs4657139 		3 0.925 0.120 1 162060117 intergenic variant A/T snv 0.48 0.010 < 0.001 1 2013 2013
dbSNP: rs794728879
rs794728879
SCN5A
2 0.925 0.120 3 38560146 splice donor variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs267607277
rs267607277
CALM1
6 0.807 0.120 14 90404386 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs398124647
rs398124647
CALM2
6 0.807 0.120 2 47161851 missense variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs398124650
rs398124650
CALM2
3 0.882 0.120 2 47161744 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs794728568
rs794728568
KCNQ1
2 0.925 0.120 11 2570707 missense variant G/A;T snv 0.700 1.000 3 2016 2016
dbSNP: rs770088052
rs770088052
SCN5A
1 1.000 0.120 3 38581182 missense variant C/A;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2016 2016