Disease: Coloboma of the Retina ×
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: rs121908403
rs121908403 		0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018