Disease: Low set ears
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 13
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 11
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del 7