Disease: Frontal bossing
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11