Disease: Macrostomia
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24