Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv 5
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs749203329
MLLT1
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 7
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs727503030
ELN
0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 6
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
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
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39