Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894478
MIR9718 ; SIX1
0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06 3
rs1060499595
SIX1 ; MIR9718
0.925 0.160 14 60648730 stop gained T/A snv 2