Gene: SCN1A ×
Source: UNIPROT ×
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: rs373967247
rs373967247
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165992420 missense variant T/C snv 5.1E-04 7.7E-05 0.700 1.000 5 2003 2013
dbSNP: rs121918808
rs121918808
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165994164 missense variant C/A;T snv 4.0E-06; 1.7E-04 2.8E-05 0.700 1.000 20 2003 2017
dbSNP: rs121918746
rs121918746
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166013756 missense variant A/G;T snv 9.6E-05 0.700 1.000 21 2003 2017
dbSNP: rs201905405
rs201905405
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991636 missense variant C/T snv 7.2E-05 1.1E-04 0.700 1.000 20 2003 2017
dbSNP: rs148442069
rs148442069
SCN1A ; SCN1A-AS1
1 0.925 0.040 2 166058574 missense variant G/A;C snv 6.8E-05 1.1E-04 0.700 1.000 21 2003 2017
dbSNP: rs121917973
rs121917973
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166012274 missense variant T/G snv 4.9E-05 7.7E-05 0.700 1.000 20 2003 2017
dbSNP: rs121918735
rs121918735
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166051906 missense variant G/A;T snv 3.2E-05 0.800 1.000 21 2003 2017
dbSNP: rs121918763
rs121918763
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991929 missense variant G/A;C snv 2.8E-05 0.800 1.000 21 2003 2017
dbSNP: rs780360360
rs780360360
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165994386 missense variant C/T snv 2.0E-05 3.5E-05 0.700 1.000 1 2010 2010
dbSNP: rs121918805
rs121918805
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.700 1.000 5 2003 2013
dbSNP: rs566081370
rs566081370
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166013811 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs121918738
rs121918738
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166013820 missense variant G/A;T snv 1.6E-05 0.800 1.000 21 2003 2017
dbSNP: rs121918771
rs121918771
SCN1A ; SCN1A-AS1
1 0.925 0.040 2 166051793 missense variant G/A snv 1.2E-05 2.8E-05 0.700 1.000 21 2003 2017
dbSNP: rs121918804
rs121918804
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991632 missense variant C/G;T snv 8.0E-06 0.700 1.000 21 2003 2017
dbSNP: rs121917933
rs121917933
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073388 missense variant C/A;T snv 8.0E-06 0.700 1.000 21 2003 2017
dbSNP: rs745378416
rs745378416
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166038036 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs758871507
rs758871507
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166073419 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs121918630
rs121918630
SCN1A ; SCN1A-AS1 ; LOC102724058
1 0.925 0.080 2 165994167 missense variant C/A snv 4.0E-06 0.800 1.000 6 2003 2013
dbSNP: rs1484321812
rs1484321812
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166036484 missense variant T/C snv 4.0E-06 0.700 1.000 20 2003 2017
dbSNP: rs121918772
rs121918772
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165998133 missense variant G/T snv 4.0E-06 0.700 1.000 21 2003 2017
dbSNP: rs121917913
rs121917913
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 166002491 missense variant T/C snv 4.0E-06 0.700 1.000 21 2003 2017
dbSNP: rs121917959
rs121917959
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166058599 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 21 2003 2017
dbSNP: rs796053089
rs796053089
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166058639 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1381184010
rs1381184010
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.040 2 165991911 missense variant G/A;T snv 4.0E-06 0.700 1.000 20 2003 2017
dbSNP: rs121917958
rs121917958
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166047699 missense variant A/G;T snv 4.0E-06 0.700 1.000 21 2003 2017