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
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10