Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
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
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs375761361
POLR3H ; ACO2
0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 9
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
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
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins 6
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31