Disease: Low-set, posteriorly rotated ears
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24