Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs749203329
MLLT1
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 7
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv 5
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19