Disease: Low set ears
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del 7
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv 7