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.
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
32 0.925 0.080 11 61956946 missense variant C/T snv 2.6E-04 1.5E-04 0.810 1.000 5 2000 2017
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
120 0.925 0.080 11 61956946 missense variant C/T snv 2.6E-04 1.5E-04 0.720 1.000 2 2017 2019