Disease: Frontal bossing
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20