Disease: Byzanthine arch palate
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs112550005
FBN1
0.742 0.240 15 48425829 stop gained G/A snv 18
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs397515789
FBN1
0.776 0.240 15 48488112 splice donor variant C/A;T snv 10