Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv 9
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 7
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
rs1135402759
ZEB2
1.000 0.280 2 144389932 missense variant T/C snv 4
rs137852981
ZEB2
0.752 0.480 2 144399104 stop gained G/A snv 30
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
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
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv 6
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