rs28940278, BEST1

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.
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
120 0.925 0.080 11 61951946 missense variant G/A snv 1.6E-05 0.800 1.000 19 1998 2019
Adult-Onset Vitelliform Macular Dystrophy
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
16 0.925 0.080 11 61951946 missense variant G/A snv 1.6E-05 0.010 1.000 1 2016 2016