Disease: Frontal bossing
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9