Disease: Byzanthine arch palate
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv 10