Disease: Orbital separation excessive
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs749203329
MLLT1
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 7