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: rs199473428
rs199473428
KCNH2
4 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.710 1.000 4 2000 2019
dbSNP: rs786205748
rs786205748
CACNA1C
1 1.000 0.120 12 2566465 missense variant C/T snv 0.710 1.000 2 2015 2019
dbSNP: rs1064795333
rs1064795333
KCNQ1
1 1.000 0.120 11 2528005 frameshift variant CT/- delins 0.710 1.000 1 2014 2014
dbSNP: rs120074184
rs120074184
KCNQ1
2 0.925 0.120 11 2583453 missense variant G/A;C;T snv 0.710 1.000 1 2009 2009
dbSNP: rs120074185
rs120074185
KCNQ1
3 0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.710 1.000 1 2005 2005
dbSNP: rs121912504
rs121912504
KCNH2
6 0.851 0.200 7 150951711 missense variant G/A snv 0.710 1.000 1 2018 2018
dbSNP: rs121912512
rs121912512
KCNH2
3 0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05 0.710 1.000 1 2003 2003
dbSNP: rs189014161
rs189014161
KCNH2
3 0.882 0.120 7 150950336 stop gained G/A;C;T snv 1.6E-05; 4.0E-06 0.710 1.000 1 2012 2012
dbSNP: rs193922365
rs193922365
KCNQ1
2 0.925 0.120 11 2572970 missense variant C/A;T snv 4.0E-06 0.710 1.000 1 2015 2015
dbSNP: rs199472730
rs199472730
KCNQ1
5 0.882 0.120 11 2572895 missense variant C/G;T snv 0.710 1.000 1 2011 2011
dbSNP: rs199472765
rs199472765
KCNQ1
2 0.925 0.120 11 2585225 stop gained C/A;G snv 0.710 1.000 1 2011 2011
dbSNP: rs199472924
rs199472924
KCNH2
2 0.925 0.120 7 150951702 missense variant A/G;T snv 0.710 1.000 1 2000 2000
dbSNP: rs199472942
rs199472942
KCNH2
2 0.925 0.120 7 150951562 missense variant A/C;G snv 0.710 1.000 1 2005 2005
dbSNP: rs199473479
rs199473479
KCNQ1
2 0.925 0.120 11 2768888 missense variant T/G snv 0.710 1.000 1 2007 2007
dbSNP: rs199473603
rs199473603
SCN5A
3 0.882 0.120 3 38562467 missense variant G/A snv 1.8E-04 2.1E-04 0.710 1.000 1 2007 2007
dbSNP: rs36210422
rs36210422
KCNH2
3 0.882 0.120 7 150958449 missense variant G/A;C snv 3.2E-04 0.710 1.000 1 2006 2006
dbSNP: rs750835733
rs750835733
CACNA1C
1 1.000 0.120 12 2593252 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 2013 2013
dbSNP: rs794728391
rs794728391
KCNH2
2 0.925 0.120 7 150950167 splice donor variant C/A;G snv 0.710 1.000 1 2008 2008
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
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: rs199472957
rs199472957
KCNH2
3 0.882 0.120 7 150951507 missense variant T/A;C;G snv 0.700 1.000 14 1998 2016
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: rs199473487
rs199473487
KCNH2
2 0.925 0.120 7 150974920 missense variant T/G snv 0.700 1.000 13 1999 2017