Source: CLINVAR ×
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
rs1553326645
ASPM
1.000 1 197094181 splice acceptor variant C/G snv 2
rs1427299519
ASXL1
1.000 20 32433315 stop gained C/T snv 8.0E-06 1.4E-05 2
rs777537805
ASXL1
1.000 20 32433740 frameshift variant TG/- delins 2
rs1555912419
ASXL1
20 32435823 stop gained G/A snv 1
rs1555742087
ASXL3
1.000 18 33738757 frameshift variant G/- delins 2
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv 3
rs782138777
ATP6V1B1 ; VAX2
1.000 0.280 2 70958399 stop gained C/T snv 1.2E-05 1.4E-05 2
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv 3
rs1563183469
AUTS2
0.925 0.120 7 70766245 missense variant A/C snv 3
rs1555202806
BBS10
1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 3
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1555918056
BCOR
X 40072918 stop gained G/A snv 1
rs1555815731
BMP7
20 57228383 frameshift variant G/- delins 1
rs753044214
BPTF
1.000 17 67903835 frameshift variant A/-;AA delins 2
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 4
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv 2
rs267606701
CANT1
1.000 0.160 17 78993858 missense variant G/A snv 1.7E-05 7.0E-06 2
rs587776897
CANT1
1.000 0.160 17 78997345 frameshift variant AG/- del 6.3E-05 2
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv 3
rs587777621
CCND2
1.000 12 4299980 missense variant C/G;T snv 7.0E-06 2
rs797044870
CDC42
0.925 1 22086456 missense variant A/G snv 3
rs750803248
CDH23
10 71646592 frameshift variant -/G delins 1