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 61955745 missense variant G/A;T snv 0.700 1.000 18 1998 2011
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
32 0.925 0.080 11 61955745 missense variant G/A;T snv 0.700 0