ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Retinal Dystrophy, Early Onset Severe ×
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: rs387906387
rs387906387 		1.000 0.080 1 94079336 frameshift variant T/- delins
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61751383
rs61751383 		0.827 0.080 1 94005500 stop gained G/A snv 2.8E-05 1.4E-05
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0