Disease: Depressed nasal bridge
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 12
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins 11