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: rs117067974
rs117067974
KCNQ2
5 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.020 1.000 2 2015 2017
dbSNP: rs1162306056
rs1162306056
KCNQ3
5 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs118192202
rs118192202
KCNQ2
3 0.882 0.080 20 63444714 missense variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs118192250
rs118192250
KCNQ3
5 0.851 0.120 8 132175457 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs118192251
rs118192251
KCNQ3
2 0.925 0.080 8 132174295 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs74582884
rs74582884
KCNQ3
2 0.925 0.080 8 132134369 missense variant G/A;T snv 2.1E-03; 1.2E-05 0.010 1.000 1 2009 2009