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: rs397508097
rs397508097
KCNQ1
6 0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05 0.700 1.000 9 2001 2014
dbSNP: rs120074178
rs120074178
KCNQ1
2 0.925 0.120 11 2570719 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-05 0.700 1.000 8 1996 2014
dbSNP: rs199472696
rs199472696
KCNQ1
4 0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 8 1997 2013
dbSNP: rs199472800
rs199472800
KCNQ1
2 0.925 0.120 11 2776033 missense variant G/A;T snv 2.3E-05; 5.7E-06 0.700 1.000 8 1997 2014
dbSNP: rs199472990
rs199472990
KCNH2
3 0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06 0.700 1.000 8 2000 2018
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 8 2000 2013
dbSNP: rs179489
rs179489
KCNQ1
2 0.925 0.120 11 2570652 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.700 1.000 7 1998 2015
dbSNP: rs199472687
rs199472687
KCNQ1
5 0.827 0.120 11 2527962 missense variant G/A snv 0.700 1.000 7 2005 2015
dbSNP: rs199472709
rs199472709
KCNQ1
7 0.790 0.120 11 2572021 missense variant G/A;T snv 0.700 1.000 7 2004 2015
dbSNP: rs199472713
rs199472713
KCNQ1
2 0.925 0.120 11 2572056 missense variant C/A;T snv 4.0E-06 0.700 1.000 7 1999 2015
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: rs120074194
rs120074194
KCNQ1
2 0.925 0.120 11 2572871 missense variant G/A;T snv 0.700 1.000 6 1997 2007
dbSNP: rs1555843953
rs1555843953
KCNE1
1 1.000 0.120 21 34449430 frameshift variant TGGA/- del 0.700 1.000 6 1997 2014
dbSNP: rs199472720
rs199472720
KCNQ1
3 0.925 0.120 11 2572105 missense variant G/A;T snv 1.6E-05 0.700 1.000 6 2000 2015
dbSNP: rs199472790
rs199472790
KCNQ1
2 0.925 0.120 11 2768900 missense variant T/G snv 0.700 1.000 6 2003 2013
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: rs199472941
rs199472941
KCNH2
2 0.925 0.120 7 150951568 missense variant C/A;G;T snv 0.700 1.000 6 2000 2016
dbSNP: rs199472968
rs199472968
KCNH2
3 0.925 0.120 7 150951484 missense variant C/T snv 0.710 1.000 6 2002 2014
dbSNP: rs397508104
rs397508104
KCNQ1 ; KCNQ1-AS1
2 0.925 0.120 11 2847859 frameshift variant C/-;CC delins 0.700 1.000 6 1999 2014
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
1 1.000 0.120 11 2661960 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 1997 2016
dbSNP: rs794728537
rs794728537
KCNQ1
3 0.925 0.120 11 2778023 stop gained C/T snv 0.700 1.000 6 1999 2014
dbSNP: rs120074177
rs120074177
KCNQ1
2 0.925 0.120 11 2570682 missense variant G/A;C snv 4.0E-06 0.700 1.000 5 1997 2014
dbSNP: rs1554895166
rs1554895166
KCNQ1
1 1.000 0.120 11 2588718 frameshift variant G/- del 0.700 1.000 5 2004 2012
dbSNP: rs1800171
rs1800171
KCNQ1
3 0.882 0.120 11 2583545 splice region variant G/A;C;T snv 4.0E-06 0.700 1.000 5 1998 2012
dbSNP: rs199472706
rs199472706
KCNQ1
3 0.925 0.120 11 2571391 missense variant C/T snv 4.0E-06 1.0E-04 0.700 1.000 5 2005 2016