Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553227742
ASPM
1.000 1 197142866 stop gained G/C snv 2
rs1553234339
COL11A1
1.000 1 103012412 splice donor variant C/T snv 2
rs1553238271
CAMTA1
1.000 1 7661827 stop gained C/T snv 2
rs1553255354
ACTA1
1.000 1 229431843 missense variant C/G snv 2
rs1553259463
AP4B1
1.000 1 113901815 stop gained GACAT/- delins 2
rs1553262429
GJC2
1.000 1 228157838 stop gained G/A snv 2
rs1553262430
GJC2
1.000 1 228157841 missense variant T/C snv 2
rs1553263326
NTRK1
1.000 1 156881446 intron variant G/A snv 2
rs1553283037
HNRNPU
1.000 1 244860382 missense variant T/C snv 2
rs1553326645
ASPM
1.000 1 197094181 splice acceptor variant C/G snv 2
rs746480833
CHRNB2 ; LOC107985206
1.000 1 154569536 missense variant C/T snv 4.0E-06; 1.2E-05 2.8E-05 2
rs746593718
TBCE ; B3GALNT2
1.000 1 235448437 stop gained -/AGTAA delins 2.0E-05 6.3E-05 2
rs765530357
ASPM
1.000 1 197101666 stop gained GATAT/- delins 4.0E-06 2
rs768849266
NMNAT2
1.000 1 183261260 missense variant C/T snv 1.2E-05 2
rs775499191
NMNAT2
1.000 1 183286706 frameshift variant -/G delins 4.0E-06; 4.0E-06 2
rs864321674
POGZ
0.925 0.160 1 151406100 stop gained G/A snv 2
rs1193888919
SASS6
1.000 1 100107513 frameshift variant -/T delins 4.0E-06 1
rs1303653650
ATP13A2
1.000 1 16996059 stop gained G/A snv 1.4E-05 1
rs1479675678
DOCK7
1.000 1 62513588 stop gained G/A;C snv 7.0E-06 1
rs1553163123
DOCK7
1.000 1 62528151 splice region variant C/T snv 1
rs573518562
TSPAN1 ; POMGNT1
1.000 1 46192147 missense variant C/T snv 1.2E-05 1
rs797044916
CDC42
1.000 1 22078546 missense variant A/G snv 1
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 8
rs121908119
WNT10A ; LOC107984111
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 5