Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 9
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8