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: rs79891110
rs79891110
CACNA1C
6 0.807 0.320 12 2504944 stop gained G/A;T snv 0.710 1.000 12 2004 2016
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: 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: 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: 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: 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: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.700 1.000 14 2000 2011
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: rs587782933
rs587782933
CACNA1C
5 0.827 0.200 12 2504526 missense variant G/A snv 0.700 1.000 6 2005 2016
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: rs28936686
rs28936686
CAV3 ; SSUH2
4 0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05 0.700 1.000 2 2003 2005
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: rs121912504
rs121912504
KCNH2
6 0.851 0.200 7 150951711 missense variant G/A snv 0.710 1.000 1 2018 2018
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: 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: rs1167115018
rs1167115018
HFE ; LOC108783645
5 0.827 0.160 6 26092760 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs146695489
rs146695489
ABCC8
2 0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs199472904
rs199472904
KCNH2
2 0.925 0.160 7 150952595 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T snv 0.700 0
dbSNP: rs199472944
rs199472944
KCNH2
3 0.882 0.120 7 150951552 missense variant G/A snv 0.700 1.000 30 1997 2015
dbSNP: rs199472815
rs199472815
KCNQ1
4 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.700 1.000 16 2000 2014
dbSNP: rs199473456
rs199473456
KCNQ1
3 0.882 0.120 11 2571394 missense variant C/T snv 1.2E-05 0.700 1.000 15 1999 2015