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
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13