Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs561330579
CELSR2
1.000 1 109258951 missense variant C/G;T snv 7.3E-05 2
rs1553283831
HNRNPU
1 244863711 frameshift variant -/G delins 1
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv 17
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs587777446
IFIH1
0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 10
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs672601362
KIF1A
0.851 0.080 2 240789246 missense variant G/A snv 7
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv 7
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs672601366
KIF1A
0.851 0.120 2 240786339 missense variant C/G snv 6
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 5
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del 4
rs1553547838
SATB2
0.925 0.280 2 199328709 stop gained G/A snv 4
rs1558519731
BCL11A
0.925 2 60546204 missense variant C/G snv 4
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs672601364
KIF1A
0.925 0.040 2 240786513 missense variant C/A snv 4
rs672601365
KIF1A
0.925 0.040 2 240786444 missense variant G/A snv 7.0E-06 4
rs672601371
KIF1A
0.925 0.080 2 240783791 missense variant A/T snv 4
rs1553548194
SCN1A-AS1 ; SCN1A
1.000 0.080 2 166048938 inframe deletion AAT/- delins 3