Gene: KCNQ2 ×
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: rs35450031
rs35450031
KCNQ2 ; LOC105372724
1 1.000 20 63413524 missense variant G/A;C snv 1.4E-03 0.700 1.000 1 2013 2013
dbSNP: rs756007198
rs756007198
KCNQ2
1 1.000 20 63428381 synonymous variant A/G snv 1.6E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs897976020
rs897976020
KCNQ2
1 1.000 20 63414131 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs775918190
rs775918190
KCNQ2
2 0.925 20 63439610 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs773171451
rs773171451
KCNQ2 ; LOC105372724
5 0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 0.700 1.000 4 2003 2015
dbSNP: rs118192203
rs118192203
KCNQ2
2 0.925 20 63444712 missense variant G/A;T snv 4.5E-06 0.700 1.000 3 2008 2015
dbSNP: rs756921902
rs756921902
KCNQ2
1 1.000 20 63439639 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs759584387
rs759584387
KCNQ2 ; LOC105372724
3 0.882 0.040 20 63413556 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 2003 2013
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.800 1.000 13 2003 2017
dbSNP: rs397514581
rs397514581
KCNQ2
3 0.882 0.040 20 63444711 missense variant C/T snv 0.800 1.000 11 2003 2017
dbSNP: rs1057516094
rs1057516094
KCNQ2
2 0.925 0.040 20 63442420 missense variant G/A snv 0.800 1.000 9 2003 2017
dbSNP: rs1057516099
rs1057516099
KCNQ2
2 0.925 0.040 20 63439624 missense variant C/T snv 0.800 1.000 9 2003 2017
dbSNP: rs1057516091
rs1057516091
KCNQ2
1 1.000 20 63442522 missense variant T/G snv 0.800 1.000 8 2003 2017
dbSNP: rs1057516095
rs1057516095
KCNQ2
1 1.000 20 63439698 missense variant G/A snv 0.800 1.000 8 2003 2017
dbSNP: rs267607198
rs267607198
KCNQ2 ; LOC105372724
3 0.882 0.080 20 63413551 missense variant C/A;T snv 0.800 1.000 8 2003 2017
dbSNP: rs74315390
rs74315390
KCNQ2
8 0.790 0.120 20 63439609 missense variant C/G;T snv 0.700 1.000 8 2003 2017
dbSNP: rs74315392
rs74315392
KCNQ2
4 0.851 0.080 20 63442482 stop gained G/A;C;T snv 0.800 1.000 8 2003 2017
dbSNP: rs796052623
rs796052623
KCNQ2
1 1.000 20 63444748 missense variant G/A snv 0.800 1.000 5 2013 2018
dbSNP: rs1057516087
rs1057516087
KCNQ2
1 1.000 20 63444736 missense variant T/C snv 0.700 1.000 4 2001 2015
dbSNP: rs727503974
rs727503974
KCNQ2
2 0.925 0.040 20 63439704 missense variant G/A snv 0.700 1.000 4 2012 2015
dbSNP: rs794727740
rs794727740
KCNQ2
3 0.925 0.040 20 63442429 missense variant C/G;T snv 0.700 1.000 4 2012 2014
dbSNP: rs1057516103
rs1057516103
KCNQ2
1 1.000 20 63438675 missense variant T/C;G snv 0.700 1.000 3 2013 2014
dbSNP: rs118192215
rs118192215
KCNQ2
2 0.925 0.040 20 63438651 missense variant G/A snv 0.700 1.000 3 2005 2013
dbSNP: rs587777219
rs587777219
KCNQ2
3 0.925 20 63442428 missense variant G/A snv 0.700 1.000 3 2012 2015
dbSNP: rs794729197
rs794729197
KCNQ2
1 1.000 20 63442523 inframe insertion -/GGT ins 0.700 1.000 3 1998 2008