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
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
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv 14
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13