Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs375761361
POLR3H ; ACO2
0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 9
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 9
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43