Disease: Large head (disorder)
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 8
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6