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: 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: 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: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2005 2005
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 0.010 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: rs199473538
rs199473538
KCNH2
3 0.882 0.120 7 150948981 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 15 2000 2016
dbSNP: rs199472990
rs199472990
KCNH2
3 0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018
dbSNP: rs199472960
rs199472960
KCNH2
1 1.000 0.120 7 150951496 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs199472944
rs199472944
KCNH2
3 0.882 0.120 7 150951552 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs199473522
rs199473522
KCNH2
3 0.882 0.120 7 150951583 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs199472936
rs199472936
KCNH2
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs199473428
rs199473428
KCNH2
4 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 5 1999 2015
dbSNP: rs199472910
rs199472910
KCNH2
5 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.700 1.000 5 2003 2017
dbSNP: rs769505732
rs769505732
KCNH2
2 0.925 0.120 7 150952696 missense variant G/A snv 4.0E-06 0.020 1.000 2 2005 2013
dbSNP: rs199473507
rs199473507
KCNH2
2 0.925 0.120 7 150952723 missense variant T/C snv 0.010 1.000 1 2005 2005
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: 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: rs199473447
rs199473447
KCNQ1
1 1.000 0.120 11 2445412 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs794728565
rs794728565
KCNQ1
3 0.882 0.120 11 2527943 frameshift variant G/- delins 0.700 1.000 1 2009 2009
dbSNP: rs199472696
rs199472696
KCNQ1
4 0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs199473394
rs199473394
KCNQ1
2 0.925 0.120 11 2570685 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018
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: rs397508118
rs397508118
KCNQ1
4 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 0.700 1.000 6 1999 2015
dbSNP: rs397508120
rs397508120
KCNQ1
3 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
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