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
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5