Disease: Orbital separation excessive
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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 47
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10