Disease: Byzanthine arch palate
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10