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
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv 5