Disease: Frontal bossing
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13