Disease: Low set ears
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1561964103
TFAP2B
0.882 0.080 6 50836108 frameshift variant G/- delins 7