Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1135402759
ZEB2
1.000 0.280 2 144389932 missense variant T/C snv 4
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv 6
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 7
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv 9
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06 12
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv 14
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv 14
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31