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: rs1060502182
rs1060502182
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166013817 frameshift variant -/A delins 0.700 0
dbSNP: rs1553560740
rs1553560740
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073405 inframe insertion -/ATC delins 0.700 1.000 2 2009 2015
dbSNP: rs1553552319
rs1553552319
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166056429 frameshift variant -/C delins 0.700 0
dbSNP: rs1060500603
rs1060500603
KCNQ2
1 1.000 0.040 20 63407083 frameshift variant -/CTGGCGC delins 0.700 0
dbSNP: rs1553542199
rs1553542199
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166039443 frameshift variant -/GATA delins 0.700 0
dbSNP: rs1553519872
rs1553519872
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991521 frameshift variant A/- del 0.700 1.000 1 2016 2016
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: rs1060502188
rs1060502188
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166012166 stop gained A/C snv 0.700 0
dbSNP: rs878854973
rs878854973
SCN8A
1 1.000 0.040 12 51705532 missense variant A/C snv 0.700 0
dbSNP: rs1553548096
rs1553548096
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166048906 stop gained A/C;T snv 0.700 1.000 2 2009 2015
dbSNP: rs121917969
rs121917969
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166037891 missense variant A/G snv 0.700 1.000 2 2004 2012
dbSNP: rs1553520320
rs1553520320
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992108 missense variant A/G snv 0.700 1.000 2 2009 2015
dbSNP: rs587784453
rs587784453
STXBP1
2 0.925 0.040 9 127666236 missense variant A/G snv 0.700 1.000 2 2015 2016
dbSNP: rs879255704
rs879255704
SCN8A
2 0.925 0.160 12 51786578 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1553561023
rs1553561023
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073620 start lost A/G snv 0.700 0
dbSNP: rs1554769099
rs1554769099
SPTAN1
1 1.000 0.040 9 128632483 missense variant A/G snv 0.700 0
dbSNP: rs1555230909
rs1555230909
SCN8A
1 1.000 0.040 12 51806326 missense variant 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: rs121918765
rs121918765
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165992284 missense 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: rs1553544559
rs1553544559
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166043754 stop gained A/T snv 0.700 0
dbSNP: rs1553543215
rs1553543215
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166041295 frameshift variant AA/- delins 0.700 0
dbSNP: rs1553525036
rs1553525036
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002570 frameshift variant ATCAGTATGATTA/- delins 0.700 0
dbSNP: rs1555873981
rs1555873981
KCNQ2 ; KCNQ2-AS1
1 1.000 0.040 20 63445313 frameshift variant C/- delins 0.700 0