Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499757
ASPM
1 197101677 frameshift variant CT/- delins 1
rs1060499758
ASPM
1 197094079 splice region variant C/T snv 1
rs748016594
KIF23
15 69426090 missense variant T/A;C snv 4.4E-06 1
rs201785518
ANKLE2
1.000 12 132729818 stop gained G/A snv 5.6E-05 1.4E-05 2
rs863225465
ANKLE2
1.000 12 132734559 missense variant G/C snv 2
rs948326794
ASNS ; CZ1P-ASNS
1.000 7 97854653 stop gained C/A;G snv 1.4E-05 2
rs199422146
ASPM
1.000 0.120 1 197142522 frameshift variant CT/- delins 7.0E-06 2
rs1060499759
ATRX
1.000 X 77688879 missense variant A/T snv 2
rs1060499760
ATRX
1.000 X 77683580 missense variant G/A snv 2
rs879255523
CIT
1.000 0.120 12 119857525 stop gained G/A snv 7.0E-06 2
rs879255524
CIT
1.000 0.120 12 119850217 missense variant G/C snv 2
rs1481539409
CZ1P-ASNS ; ASNS
1.000 7 97859285 frameshift variant T/- delins 2
rs1057519012
EP300
1.000 22 41147864 frameshift variant -/G delins 2
rs367962377
MYCN
1.000 0.320 2 15945716 stop gained C/A;T snv 8.0E-06 2.1E-05 2
rs1554777480
STXBP1
9 127666235 missense variant C/G snv 2
rs121909123
TCF4
1.000 0.200 18 55228993 missense variant C/G;T snv 2
rs1164465811
WWOX
1.000 16 78425056 splice donor variant G/A;C;T snv 4.0E-06 2
rs1060499740
CINP
14 102348559 stop lost A/C snv 3
rs879255522
CIT
0.925 0.120 12 119822819 splice donor variant C/T snv 3
rs149595793
DLG3
1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 3
rs869312681
GRIN2A
1.000 16 9763169 missense variant T/C snv 3
rs869312660
HDAC8
0.925 0.160 X 72488932 splice donor variant C/T snv 3
rs1057518980
KIF11
0.925 0.120 10 92613446 frameshift variant ATAAATCAAT/- delins 3
rs1554034812
NIPBL
0.925 0.240 5 37058938 frameshift variant G/- delins 3
rs372292910
PCDHB4
1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04 3