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: rs796052653
rs796052653
KCNQ2 ; LOC105372724
3 0.925 20 63413526 missense variant C/A;T snv 0.700 1.000 2 2013 2015
dbSNP: rs864321707
rs864321707
KCNQ2
3 0.882 0.040 20 63439608 missense variant G/A snv 0.700 1.000 2 2013 2015
dbSNP: rs886041262
rs886041262
KCNQ2
6 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 1.000 2 2013 2014
dbSNP: rs1057516077
rs1057516077
KCNQ2 ; KCNQ2-AS1
1 1.000 20 63446793 missense variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1057516079
rs1057516079
KCNQ2 ; KCNQ2-AS1
1 1.000 20 63445281 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1057516083
rs1057516083
KCNQ2
1 1.000 20 63444783 missense variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516085
rs1057516085
KCNQ2
8 0.827 0.080 20 63444747 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1057516086
rs1057516086
KCNQ2
1 1.000 20 63444741 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516088
rs1057516088
KCNQ2
1 1.000 20 63444706 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057516092
rs1057516092
KCNQ2
1 1.000 20 63442507 missense variant C/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516093
rs1057516093
KCNQ2
1 1.000 20 63442465 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516096
rs1057516096
KCNQ2
1 1.000 20 63439690 missense variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516097
rs1057516097
KCNQ2
3 0.882 0.040 20 63439671 missense variant G/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1057516100
rs1057516100
KCNQ2
1 1.000 20 63439614 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1057516101
rs1057516101
KCNQ2
1 1.000 20 63439599 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057516104
rs1057516104
KCNQ2 ; LOC105372721
1 1.000 20 63433905 splice acceptor variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516109
rs1057516109
KCNQ2 ; LOC105372721
1 1.000 20 63433861 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1057516116
rs1057516116
KCNQ2
1 1.000 20 63415046 missense variant T/G snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1057516118
rs1057516118
KCNQ2
1 1.000 20 63414927 missense variant C/G snv 0.700 1.000 1 2015 2015
dbSNP: rs118192234
rs118192234
KCNQ2 ; LOC105372724
2 0.925 20 63413555 missense variant C/A;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs118192236
rs118192236
KCNQ2 ; LOC105372724
4 0.851 0.080 20 63413472 stop gained G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1555853593
rs1555853593
KCNQ2 ; LOC105372724
1 1.000 20 63413547 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs727503973
rs727503973
KCNQ2
2 0.925 0.040 20 63439665 missense variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs796052620
rs796052620
KCNQ2
1 1.000 20 63444766 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs796052626
rs796052626
KCNQ2
1 1.000 20 63444721 missense variant G/A snv 0.700 1.000 1 2015 2015