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: rs869312183
rs869312183
9 32541986 stop gained G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
Eye Diseases 0.700 1.000 1 2016 2016