Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs121917984
SCN1A-AS1 ; SCN1A
0.790 0.080 2 166052869 missense variant G/A;C snv 6
rs794726827
SCN1A ; SCN1A-AS1
0.827 0.120 2 166054637 splice donor variant C/A;G;T snv 6
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.160 2 166013812 stop gained G/A snv 4
rs869312670
LOC102724058 ; SCN1A ; SCN1A-AS1
0.925 0.160 2 166013745 frameshift variant A/- del 3
rs121917929
SCN1A-AS1 ; SCN1A
0.925 0.160 2 166046970 missense variant G/A;T snv 3
rs1553548194
SCN1A-AS1 ; SCN1A
1.000 0.080 2 166048938 inframe deletion AAT/- delins 3
rs121917915
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv 3
rs794726825
LOC102724058 ; SCN1A ; SCN1A-AS1
1.000 0.040 2 165996040 frameshift variant T/-;TT delins 2
rs886039529
LOC102724058 ; SCN1A ; SCN1A-AS1
1.000 0.080 2 166036051 frameshift variant TT/- delins 2
rs121918735
SCN1A-AS1 ; SCN1A
1.000 0.040 2 166051906 missense variant G/A;T snv 3.2E-05 2
rs121918736
SCN1A-AS1 ; SCN1A
1.000 0.040 2 166037907 missense variant G/A;C snv 2
rs121918622
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 1
rs797045941
SCN1A-AS1 ; SCN1A
2 166051964 missense variant A/G snv 1
rs121918799
SCN1A-AS1 ; SCN1A ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 1
rs1553531385
SCN1A ; LOC102724058 ; SCN1A-AS1
2 166012262 frameshift variant AATA/- del 1
rs121918751
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165991841 missense variant A/C snv 1