Disease: Frontal bossing
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins 9