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
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12