Disease: Low set ears
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24