Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv 9
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 7
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv 6
rs1135402759
ZEB2
1.000 0.280 2 144389932 missense variant T/C snv 4
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22