Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv 6
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 7
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv 14
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs864309488
GMNN
0.776 0.440 6 24777296 missense variant A/G snv 14
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 22
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
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