Disease: Brachycephaly
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44