Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
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
rs1554817910
ZMIZ1
1.000 10 79216266 missense variant A/G snv 4
rs730882215
WWOX
0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06 4
rs1057517846
WWOX
1.000 16 78108446 stop gained G/A snv 2
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs797046101
WDR45
0.851 0.280 X 49076469 stop gained G/A snv 5
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs747824231
VARS1
0.882 0.040 6 31782361 missense variant C/G;T snv 4.1E-06 4
rs763777257
VARS1
0.882 0.040 6 31785269 stop gained G/A snv 4.0E-06 4
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs34832477
TUBGCP2
0.925 0.120 10 133293066 missense variant G/A snv 4.0E-04 1.6E-03 3
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs797045074
TUBB4A
0.882 0.120 19 6495335 missense variant C/G;T snv 7
rs886041459
TUBB3
0.925 0.080 16 89935140 missense variant C/T snv 3
rs1135401758
TUBB2B
0.882 0.080 6 3227511 missense variant C/G snv 4
rs730882212
TUBA3E
0.851 0.120 2 130194199 missense variant G/A snv 7.2E-05; 4.0E-06 4.2E-05 4
rs587784491
TUBA1A
0.925 0.240 12 49186832 missense variant C/T snv 4
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 17