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: rs1554604767
rs1554604767
0.925 0.120 8 86578688 splice donor variant C/T snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
Eye Diseases 0.700 0