Disease: Congenital ocular coloboma (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200671094
BMP4
0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06 4
rs1329285216
FFAR4 ; RBP4
0.925 0.080 10 93593997 missense variant A/T snv 2
rs552445199
TMX3
0.925 0.080 18 68711389 missense variant C/T snv 2.9E-05 1.4E-05 2