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
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
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
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13