Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 18
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 16
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15