rs753657349, PRPH2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Adult-Onset Vitelliform Macular Dystrophy
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
16 0.925 0.080 6 42704568 missense variant C/A;T snv 2.0E-05 2.1E-05 0.700 0
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.925 0.080 6 42704568 missense variant C/A;T snv 2.0E-05 2.1E-05 0.700 0