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: rs1057516094
rs1057516094
KCNQ2
2 0.925 0.040 20 63442420 missense variant G/A snv 0.700 0
dbSNP: rs1057516099
rs1057516099
KCNQ2
2 0.925 0.040 20 63439624 missense variant C/T snv 0.700 0
dbSNP: rs1057519535
rs1057519535
KCNQ2
2 0.925 0.040 20 63439652 missense variant C/A;G snv 0.700 0
dbSNP: rs1057519536
rs1057519536
KCNQ2
2 0.925 0.040 20 63442424 missense variant A/T snv 0.700 0
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.700 0
dbSNP: rs118192235
rs118192235
KCNQ2 ; LOC105372724
3 0.882 0.080 20 63413471 missense variant C/A;T snv 0.700 0
dbSNP: rs1555850842
rs1555850842
KCNQ2
1 1.000 0.040 20 63407136 frameshift variant -/G delins 0.700 0
dbSNP: rs727503973
rs727503973
KCNQ2
2 0.925 0.040 20 63439665 missense variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs74315392
rs74315392
KCNQ2
4 0.851 0.080 20 63442482 stop gained G/A;C;T snv 0.010 1.000 1 2019 2019