Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs153109
IL27
0.623 0.600 16 28507775 intron variant T/C snv 0.43 37
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 25
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1554199368
NSD1
0.827 0.160 5 177256956 missense variant C/T snv 12
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs12508721
IL21-AS1
0.742 0.360 4 122623509 intron variant C/T snv 0.24 11
rs387906692
FAM20A ; PRKAR1A
0.752 0.480 17 68530405 stop gained C/T snv 11
rs907715
IL21
0.752 0.520 4 122613898 intron variant C/T snv 0.35 11
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs7977932
LRRC43 ; IL31
0.763 0.320 12 122172836 intron variant C/G;T snv 10
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs4758680
LRRC43
0.763 0.320 12 122170805 intron variant T/A;G snv 9
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8