Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060501723
STXBP1
1.000 0.040 9 127660048 frameshift variant A/- del 1
rs1554776948
STXBP1
1.000 0.040 9 127661101 splice acceptor variant G/T snv 1
rs1060501724
STXBP1
1.000 0.040 9 127661161 missense variant A/C snv 1
rs796053355
STXBP1
0.925 0.040 9 127663343 missense variant C/T snv 2
rs587784453
STXBP1
0.925 0.040 9 127666236 missense variant A/G snv 2
rs751170778
STXBP1
1.000 0.040 9 127668083 stop gained T/C;G snv 4.0E-06 1
rs587777310
STXBP1
0.925 0.040 9 127668132 missense variant G/A snv 2
rs796053361
STXBP1
0.925 0.040 9 127668160 missense variant G/A;T snv 4
rs796053366
STXBP1
0.925 0.040 9 127673250 stop gained 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
rs796053368
STXBP1
0.925 0.040 9 127678510 missense variant C/T snv 2
rs1554769099
SPTAN1
1.000 0.040 9 128632483 missense variant A/G snv 1
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1057518066
KCNT1
1.000 0.040 9 135765732 missense variant C/T snv 1
rs886044717
KCNT1
0.925 0.040 9 135779423 missense variant T/A snv 3
rs587777308
GABRA1
0.763 0.040 5 161873196 missense variant G/A snv 14
rs796052491
GABRA1
0.851 0.040 5 161890982 missense variant T/A;C snv 4
rs1060499553
GABRA1
0.827 0.040 5 161890983 missense variant G/A snv 6
rs796052493
GABRA1
0.851 0.040 5 161895668 missense variant G/A;T snv 4
rs1553519872
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165991521 frameshift variant A/- del 1
rs1553520029
SCN1A-AS1 ; LOC102724058 ; SCN1A
1.000 0.040 2 165991678 missense variant T/C snv 1
rs1553520227
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165992006 missense variant C/G snv 1
rs1553520318
LOC102724058 ; SCN1A ; SCN1A-AS1
1.000 0.040 2 165992101 missense variant C/T snv 1