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: 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: 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: 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: 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: 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: 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: rs199473460
rs199473460
KCNQ1
2 0.925 0.120 11 2572862 missense variant T/C;G snv 0.710 0.857 7 1993 2012
dbSNP: rs794728562
rs794728562
KCNQ1
1 1.000 0.120 11 2776985 splice acceptor variant G/- delins 0.710 1.000 5 1999 2018
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: 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: rs199473479
rs199473479
KCNQ1
2 0.925 0.120 11 2768888 missense variant T/G snv 0.710 1.000 1 2007 2007
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: 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: rs199472719
rs199472719
KCNQ1
3 0.882 0.120 11 2572104 missense variant C/T snv 4.1E-06 0.700 1.000 12 2000 2015
dbSNP: rs199473411
rs199473411
KCNQ1
3 0.882 0.120 11 2585275 missense variant C/A;T snv 0.700 1.000 11 1997 2015
dbSNP: rs1060500621
rs1060500621
KCNQ1
1 1.000 0.120 11 2572846 missense variant GA/TT mnv 0.700 1.000 10 1999 2016