Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs375761361
POLR3H ; ACO2
0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 9
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 9
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv 8
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins 6
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins 4
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27