Disease: ABLEPHARON-MACROSTOMIA SYNDROME
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62