Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917915
rs121917915
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs121917929
rs121917929
SCN1A ; SCN1A-AS1
0.925 0.160 2 166046970 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs121917984
rs121917984
SCN1A ; SCN1A-AS1
0.790 0.080 2 166052869 missense variant G/A;C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs121918735
rs121918735
SCN1A ; SCN1A-AS1
1.000 0.040 2 166051906 missense variant G/A;T snv 3.2E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs121918736
rs121918736
SCN1A ; SCN1A-AS1
1.000 0.040 2 166037907 missense variant G/A;C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs121918751
rs121918751
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165991841 missense variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553531385
rs1553531385
SCN1A ; SCN1A-AS1 ; LOC102724058
2 166012262 frameshift variant AATA/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553548194
rs1553548194
SCN1A ; SCN1A-AS1
1.000 0.080 2 166048938 inframe deletion AAT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs794726710
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.160 2 166013812 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs794726825
rs794726825
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165996040 frameshift variant T/-;TT delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs794726827
rs794726827
SCN1A ; SCN1A-AS1
0.827 0.120 2 166054637 splice donor variant C/A;G;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs797045941
rs797045941
SCN1A ; SCN1A-AS1
2 166051964 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312670
rs869312670
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.160 2 166013745 frameshift variant A/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs886039529
rs886039529
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.080 2 166036051 frameshift variant TT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0