Disease: Low set ears
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv 4