Disease: Orbital separation excessive
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16