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: rs794726820
rs794726820
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166041327 frameshift variant -/A ins 0.700 1.000 1 2015 2015
dbSNP: rs863225038
rs863225038
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166048921 frameshift variant -/A delins 0.700 1.000 1 2006 2006
dbSNP: rs1057519534
rs1057519534
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166013758 frameshift variant -/A delins 0.700 0
dbSNP: rs1553266166
rs1553266166
SNX27
1 1.000 0.040 1 151692548 frameshift variant -/A delins 0.700 0
dbSNP: rs794726814
rs794726814
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991983 frameshift variant -/AATTCCAA delins 0.700 1.000 1 2015 2015
dbSNP: rs794726819
rs794726819
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992278 frameshift variant -/ACAT delins 0.700 1.000 1 2015 2015
dbSNP: rs794726741
rs794726741
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991922 frameshift variant -/ACCG delins 0.700 1.000 1 2015 2015
dbSNP: rs794726701
rs794726701
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992391 stop gained -/ACTTT delins 0.700 1.000 1 2015 2015
dbSNP: rs794726723
rs794726723
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166009749 frameshift variant -/AG delins 0.700 1.000 1 2015 2015
dbSNP: rs794726846
rs794726846
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166051751 frameshift variant -/CA delins 0.700 1.000 1 2015 2015
dbSNP: rs794726850
rs794726850
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165994167 frameshift variant -/CA delins 0.700 1.000 1 2015 2015
dbSNP: rs794726702
rs794726702
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992024 frameshift variant -/CC ins 0.700 1.000 1 2015 2015
dbSNP: rs794726717
rs794726717
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166045044 frameshift variant -/G delins 0.700 1.000 1 2015 2015
dbSNP: rs794726750
rs794726750
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166041343 frameshift variant -/GGTC delins 0.700 1.000 1 2015 2015
dbSNP: rs794726777
rs794726777
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166046964 frameshift variant -/T ins 0.700 1.000 1 2015 2015
dbSNP: rs794726706
rs794726706
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166012261 frameshift variant -/TA delins 0.700 1.000 1 2015 2015
dbSNP: rs794726812
rs794726812
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166051857 frameshift variant -/TATAC ins 0.700 1.000 1 2015 2015
dbSNP: rs794726757
rs794726757
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165994352 stop gained -/TCATGATGCTTATGTCAAAAACTTGTCTGGTTACG delins 0.700 1.000 1 2015 2015
dbSNP: rs794726704
rs794726704
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166044045 frameshift variant A/- delins 0.700 1.000 1 2015 2015
dbSNP: rs794726810
rs794726810
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166046846 frameshift variant A/- delins 0.700 1.000 1 2015 2015
dbSNP: rs869312670
rs869312670
SCN1A ; SCN1A-AS1 ; LOC102724058
3 0.925 0.160 2 166013745 frameshift variant A/- del 0.700 0
dbSNP: rs794726695
rs794726695
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166047679 frameshift variant A/-;AA delins 0.700 1.000 1 2015 2015
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
2 0.925 0.040 2 166052866 missense variant A/C snv 0.800 1.000 22 2003 2017
dbSNP: rs121918737
rs121918737
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166037868 missense variant A/C snv 0.800 1.000 22 2003 2017
dbSNP: rs121917944
rs121917944
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002479 missense variant A/C snv 0.700 1.000 21 2003 2017