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: rs118192250
rs118192250
KCNQ3
5 0.851 0.120 8 132175457 missense variant C/A snv 0.810 1.000 2 2006 2010
dbSNP: rs118192248
rs118192248
KCNQ3
1 1.000 0.080 8 132175472 missense variant T/A;C snv 7.0E-06 0.800 1.000 1 2010 2010
dbSNP: rs118192249
rs118192249
KCNQ3
3 0.882 0.080 8 132175461 missense variant A/G snv 4.0E-06 0.800 1.000 1 2010 2010
dbSNP: rs118192251
rs118192251
KCNQ3
2 0.925 0.080 8 132174295 missense variant G/A snv 0.710 1.000 1 2015 2015
dbSNP: rs118192192
rs118192192
KCNQ2 ; KCNQ2-AS1
1 1.000 0.080 20 63446786 inframe deletion CTT/- del 0.700 1.000 2 2008 2009
dbSNP: rs118192213
rs118192213
KCNQ2
1 1.000 0.080 20 63438708 frameshift variant -/C delins 0.700 1.000 1 2007 2007
dbSNP: rs267607198
rs267607198
KCNQ2 ; LOC105372724
3 0.882 0.080 20 63413551 missense variant C/A;T snv 0.700 1.000 1 2004 2004
dbSNP: rs74315392
rs74315392
KCNQ2
4 0.851 0.080 20 63442482 stop gained G/A;C;T snv 0.700 1.000 1 2003 2003
dbSNP: rs118192235
rs118192235
KCNQ2 ; LOC105372724
3 0.882 0.080 20 63413471 missense variant C/A;T snv 0.700 0
dbSNP: rs118192247
rs118192247
KCNQ3
3 0.882 0.080 8 132175491 missense variant C/T snv 0.700 0
dbSNP: rs118192252
rs118192252
KCNQ3
1 1.000 0.080 8 132141191 missense variant T/C snv 1.5E-04 3.5E-05 0.700 0
dbSNP: rs118192254
rs118192254
KCNQ3
1 1.000 0.080 8 132129419 missense variant T/C snv 2.2E-04 2.2E-04 0.700 0
dbSNP: rs1554627439
rs1554627439
KCNQ3
1 1.000 0.080 8 132175487 missense variant A/G snv 0.700 0
dbSNP: rs749205120
rs749205120
KCNQ3
3 1.000 0.080 8 132180245 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs796052676
rs796052676
KCNQ3
10 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
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: 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