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: rs397508091
rs397508091
KCNQ1 ; KCNQ1OT1
2 0.925 0.120 11 2662080 stop gained C/T snv 0.700 0
dbSNP: rs397508105
rs397508105
KCNQ1 ; KCNQ1-AS1
1 1.000 0.120 11 2847865 frameshift variant -/A delins 0.700 0
dbSNP: rs74462309
rs74462309
KCNQ1
2 0.925 0.120 11 2583457 missense variant A/C;G;T snv 0.700 0
dbSNP: rs762814879
rs762814879
KCNQ1
2 0.925 0.120 11 2528019 splice donor variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs765169367
rs765169367
KCNQ1
1 1.000 0.120 11 2778026 frameshift variant G/- del 4.0E-06 0.700 0
dbSNP: rs794728524
rs794728524
KCNQ1
1 1.000 0.120 11 2585228 missense variant G/T snv 0.700 0
dbSNP: rs794728531
rs794728531
KCNQ1
2 0.925 0.120 11 2776055 splice donor variant G/A snv 0.700 0
dbSNP: rs794728558
rs794728558
KCNQ1 ; KCNQ1OT1
1 1.000 0.120 11 2662012 frameshift variant C/- delins 8.0E-06 0.700 0
dbSNP: rs794728571
rs794728571
KCNQ1
1 1.000 0.120 11 2585260 stop gained C/T snv 0.700 0
dbSNP: rs796052166
rs796052166
KCNQ1
1 1.000 0.120 11 2571405 splice donor variant T/G snv 0.700 0
dbSNP: rs878854348
rs878854348
KCNQ1
1 1.000 0.120 11 2777975 splice acceptor variant G/C snv 0.700 0
dbSNP: rs878854350
rs878854350
KCNQ1
1 1.000 0.120 11 2776984 splice acceptor variant A/G snv 0.700 0
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: 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: 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: 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: 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: rs199473411
rs199473411
KCNQ1
3 0.882 0.120 11 2585275 missense variant C/A;T snv 0.700 1.000 11 1997 2015
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: rs120074194
rs120074194
KCNQ1
2 0.925 0.120 11 2572871 missense variant G/A;T snv 0.700 1.000 6 1997 2007
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: 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: rs1564886323
rs1564886323
KCNQ1
1 1.000 0.120 11 2768842 splice acceptor variant AG/- del 0.700 1.000 3 1997 2009
dbSNP: rs397508133
rs397508133
KCNQ1
1 1.000 0.120 11 2583433 splice acceptor variant A/C;G snv 0.700 1.000 3 1997 2016