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
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9