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
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16