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
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23