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
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13