Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796053361
STXBP1
0.925 0.040 9 127668160 missense variant G/A;T snv 4
rs587777310
STXBP1
0.925 0.040 9 127668132 missense variant G/A snv 2
rs587784453
STXBP1
0.925 0.040 9 127666236 missense variant A/G snv 2
rs796053355
STXBP1
0.925 0.040 9 127663343 missense variant C/T snv 2
rs796053366
STXBP1
0.925 0.040 9 127673250 stop gained C/T snv 2
rs796053368
STXBP1
0.925 0.040 9 127678510 missense variant C/T snv 2
rs886041246
STXBP1
0.925 0.040 9 127675910 missense variant G/A;T snv 2
rs1057522982
STXBP1
1.000 0.040 9 127678429 splice acceptor variant A/G;T snv 1
rs1060501722
STXBP1
1.000 0.040 9 127678505 stop gained G/A;C snv 1
rs1060501723
STXBP1
1.000 0.040 9 127660048 frameshift variant A/- del 1
rs1060501724
STXBP1
1.000 0.040 9 127661161 missense variant A/C snv 1
rs1554776948
STXBP1
1.000 0.040 9 127661101 splice acceptor variant G/T snv 1
rs751170778
STXBP1
1.000 0.040 9 127668083 stop gained T/C;G snv 4.0E-06 1
rs1554769099
SPTAN1
1.000 0.040 9 128632483 missense variant A/G snv 1
rs1554965669
SLC25A22
0.925 0.040 11 792888 stop gained G/A snv 2
rs936639741
SLC25A22
1.000 0.040 11 793551 stop gained G/A snv 1
rs796053228
SCN8A
0.882 0.160 12 51807100 missense variant C/G;T snv 4
rs879255704
SCN8A
0.925 0.160 12 51786578 missense variant A/G snv 2
rs1555230909
SCN8A
1.000 0.040 12 51806326 missense variant A/G snv 1
rs878854973
SCN8A
1.000 0.040 12 51705532 missense variant A/C snv 1
rs542420576
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.040 2 166036371 stop gained G/A;T snv 4.1E-06 2
rs1060502182
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166013817 frameshift variant -/A delins 1
rs1553522321
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165998052 frameshift variant G/- delins 1
rs1553522517
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165998176 splice acceptor variant C/T snv 1
rs1553525210
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166002647 missense variant G/A snv 1