Gene: KCNQ1 ×
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: rs199472805
rs199472805
KCNQ1
2 0.925 0.120 11 2777000 missense variant T/C;G snv 0.700 1.000 9 2005 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: 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
dbSNP: rs199472755
rs199472755
KCNQ1
4 0.851 0.120 11 2583478 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 5 2005 2012
dbSNP: rs139042529
rs139042529
KCNQ1
2 0.925 0.120 11 2570663 stop gained C/A;G;T snv 8.0E-06; 9.4E-04 0.700 1.000 4 2005 2015
dbSNP: rs397508096
rs397508096
KCNQ1
1 1.000 0.120 11 2445251 stop gained C/G snv 0.700 1.000 2 2005 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: rs147445322
rs147445322
KCNQ1 ; KCNQ1-AS1
4 0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 0.010 1.000 1 2005 2005
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: rs199472709
rs199472709
KCNQ1
7 0.790 0.120 11 2572021 missense variant G/A;T snv 0.700 1.000 7 2004 2015
dbSNP: rs1554895166
rs1554895166
KCNQ1
1 1.000 0.120 11 2588718 frameshift variant G/- del 0.700 1.000 5 2004 2012
dbSNP: rs397508083
rs397508083
KCNQ1
1 1.000 0.120 11 2588719 frameshift variant A/-;AA delins 7.0E-06 0.700 1.000 5 2004 2012
dbSNP: rs199472790
rs199472790
KCNQ1
2 0.925 0.120 11 2768900 missense variant T/G snv 0.700 1.000 6 2003 2013
dbSNP: rs199473451
rs199473451
KCNQ1
2 0.925 0.120 11 2527971 missense variant A/G snv 0.700 1.000 3 2003 2007
dbSNP: rs397508087
rs397508087
KCNQ1
2 1.000 0.120 11 2588799 frameshift variant C/-;CC delins 0.700 1.000 3 2003 2016
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.020 1.000 2 2003 2004
dbSNP: rs199472807
rs199472807
KCNQ1
2 0.925 0.120 11 2777002 missense variant G/A;C snv 0.700 1.000 2 2003 2016
dbSNP: rs120074181
rs120074181
KCNQ1
2 0.925 0.120 11 2572981 missense variant G/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs120074186
rs120074186
KCNQ1
4 0.851 0.120 11 2572979 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs199472716
rs199472716
KCNQ1
1 1.000 0.120 11 2572081 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs199473454
rs199473454
KCNQ1
1 1.000 0.120 11 2570729 missense variant T/A snv 0.010 1.000 1 2003 2003
dbSNP: rs397508119
rs397508119
KCNQ1
1 1.000 0.120 11 2570727 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs397508120
rs397508120
KCNQ1
3 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
dbSNP: rs199473401
rs199473401
KCNQ1
4 0.925 0.120 11 2570722 missense variant T/C snv 0.010 1.000 1 2002 2002
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