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: 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: 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: rs120074190
rs120074190
KCNQ1
3 0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05 0.730 1.000 11 1999 2017
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
dbSNP: rs28928905
rs28928905
KCNH2
5 0.851 0.120 7 150952514 missense variant C/G;T snv 0.730 1.000 5 2001 2013
dbSNP: rs120074189
rs120074189
KCNQ1
4 0.851 0.120 11 2778003 missense variant C/T snv 0.720 0.917 12 1998 2019
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: rs199472918
rs199472918
KCNH2
3 0.882 0.120 7 150951738 missense variant A/G snv 7.2E-05 5.6E-05 0.720 1.000 6 2000 2014
dbSNP: rs9333649
rs9333649
KCNH2
3 0.882 0.200 7 150951679 missense variant C/A;G;T snv 0.720 1.000 6 2000 2016
dbSNP: rs28928904
rs28928904
KCNH2
2 0.925 0.120 7 150951615 missense variant A/C;G;T snv 4.0E-06 0.720 1.000 2 1996 2005
dbSNP: rs199473522
rs199473522
KCNH2
3 0.882 0.120 7 150951583 missense variant C/T snv 0.710 1.000 14 1999 2014
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: rs199473480
rs199473480
KCNQ1
2 0.925 0.120 11 2776006 stop gained C/A;T snv 0.710 1.000 12 2004 2016
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: rs120074179
rs120074179
KCNQ1
3 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.710 1.000 11 1996 2012
dbSNP: rs199472845
rs199472845
KCNH2
2 0.925 0.120 7 150974851 missense variant C/A;T snv 0.710 1.000 10 1999 2015
dbSNP: rs121912507
rs121912507
KCNH2
4 0.882 0.120 7 150951511 missense variant C/G;T snv 0.710 1.000 9 1995 2013
dbSNP: rs199472756
rs199472756
KCNQ1
3 0.925 0.120 11 2583486 missense variant G/A snv 0.710 1.000 9 2009 2016
dbSNP: rs199472776
rs199472776
KCNQ1
3 0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04 0.710 1.000 9 2007 2015
dbSNP: rs199472916
rs199472916
KCNH2
2 0.925 0.120 7 150951793 missense variant G/A;T snv 0.710 1.000 9 1998 2019
dbSNP: rs199473460
rs199473460
KCNQ1
2 0.925 0.120 11 2572862 missense variant T/C;G snv 0.710 0.857 7 1993 2012
dbSNP: rs199472968
rs199472968
KCNH2
3 0.925 0.120 7 150951484 missense variant C/T snv 0.710 1.000 6 2002 2014
dbSNP: rs773724817
rs773724817
KCNH2
4 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.710 0.800 5 2003 2012
dbSNP: rs794728562
rs794728562
KCNQ1
1 1.000 0.120 11 2776985 splice acceptor variant G/- delins 0.710 1.000 5 1999 2018