Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14