Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060505033
ZNF711
1.000 0.200 X 85264383 missense variant T/C snv 2
rs1555974716
ZNF711
1.000 0.200 X 85270774 frameshift variant -/A delins 2
rs730882205
ZNF526
1.000 0.040 19 42224882 missense variant A/C snv 2
rs1568135082
ZNF407
18 74633832 inframe insertion -/AGT delins 2
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs1135401779
ZNF292
6 87256692 frameshift variant AAGA/- delins 1
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
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs1135401771
ZMYND11
1.000 10 221301 frameshift variant C/- del 2
rs1135401770
ZBTB18
1.000 1 244053916 stop gained C/G;T snv 2
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs864309661
WDR45
1.000 0.080 X 49077715 inframe deletion CCA/- delins 4
rs1057519622
WDR45
1.000 0.080 X 49078038 splice donor variant AC/- delins 2
rs1554823375
WDR37
0.851 0.160 10 1080454 missense variant C/T snv 8
rs1562159088
WASF1
1.000 0.040 6 110100644 stop gained G/A snv 2
rs1562159562
WASF1
6 110101594 stop gained G/A snv 1
rs1562159599
WASF1
6 110101628 frameshift variant G/CCTGGC delins 1
rs1135401769
WAC
1.000 10 28590718 splice acceptor variant A/G snv 2
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13