Disease: Orbital separation excessive
Source: ALL
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
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 33
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8