Disease: Fundus coloboma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554581757
rs1554581757 		0.882 0.120 8 60742945 stop gained C/T snv
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0