Disease: RETINAL CONE DYSTROPHY 4 ×
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: rs71454844
rs71454844 		1.000 0.080 12 1844466 stop gained G/A;T snv 4.0E-06; 4.1E-04
CUI: C1864849
Disease: RETINAL CONE DYSTROPHY 4
RETINAL CONE DYSTROPHY 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0