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: rs1553403585
rs1553403585 		2 73449482 frameshift variant -/CTATTCTGGACTG ins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0