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: rs1057516085
rs1057516085
KCNQ2
8 0.827 0.080 20 63444747 missense variant C/T snv 0.700 1.000 7 2013 2017
dbSNP: rs1057516097
rs1057516097
KCNQ2
3 0.882 0.040 20 63439671 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057516098
rs1057516098
KCNQ2
2 0.925 0.040 20 63439657 missense variant C/T snv 0.700 1.000 5 2012 2017
dbSNP: rs1057518066
rs1057518066
KCNT1
1 1.000 0.040 9 135765732 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057521537
rs1057521537
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002695 missense variant C/A;G snv 0.700 0
dbSNP: rs1057522982
rs1057522982
STXBP1
1 1.000 0.040 9 127678429 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs1057523858
rs1057523858
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166047647 missense variant A/T snv 0.700 1.000 5 2009 2015
dbSNP: rs1060499553
rs1060499553
GABRA1
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1060500603
rs1060500603
KCNQ2
1 1.000 0.040 20 63407083 frameshift variant -/CTGGCGC delins 0.700 0
dbSNP: rs1060501722
rs1060501722
STXBP1
1 1.000 0.040 9 127678505 stop gained G/A;C snv 0.700 0
dbSNP: rs1060501723
rs1060501723
STXBP1
1 1.000 0.040 9 127660048 frameshift variant A/- del 0.700 0
dbSNP: rs1060501724
rs1060501724
STXBP1
1 1.000 0.040 9 127661161 missense variant A/C snv 0.700 0
dbSNP: rs1060502182
rs1060502182
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166013817 frameshift variant -/A delins 0.700 0
dbSNP: rs1060502185
rs1060502185
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166058565 splice region variant G/C;T snv 0.700 0
dbSNP: rs1060502187
rs1060502187
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166058641 frameshift variant G/- delins 0.700 0
dbSNP: rs1060502188
rs1060502188
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166012166 stop gained A/C snv 0.700 0
dbSNP: rs1060502190
rs1060502190
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002489 missense variant G/C snv 0.700 0
dbSNP: rs1060503108
rs1060503108
CACNA2D2
1 1.000 0.040 3 50387592 frameshift variant TA/- delins 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 1.000 4 2016 2017
dbSNP: rs118192194
rs118192194
KCNQ2 ; KCNQ2-AS1
3 0.882 0.040 20 63446769 missense variant G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs118192211
rs118192211
KCNQ2
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.700 0
dbSNP: rs118192215
rs118192215
KCNQ2
2 0.925 0.040 20 63438651 missense variant G/A snv 0.700 1.000 3 2005 2013
dbSNP: rs118192226
rs118192226
KCNQ2
3 0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 0.700 0
dbSNP: rs118192228
rs118192228
KCNQ2
2 0.925 0.040 20 63414902 splice donor variant C/T snv 0.700 0
dbSNP: rs118192236
rs118192236
KCNQ2 ; LOC105372724
4 0.851 0.080 20 63413472 stop gained G/A;C snv 0.700 1.000 3 2003 2016