Disease: Retinal Dystrophies ×
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: rs567435284
rs567435284 		21 44333137 missense variant C/A;G;T snv 4.1E-06; 5.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs748531024
rs748531024 		1.000 0.080 21 44339161 frameshift variant -/TGCACGCTGTGCAGCT ins 4.4E-05; 2.2E-05 7.7E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0