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
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
32 0.925 0.080 11 61959564 missense variant G/A snv 4.8E-05 7.0E-06 0.710 1.000 5 2008 2015
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
120 0.925 0.080 11 61959564 missense variant G/A snv 4.8E-05 7.0E-06 0.700 1.000 18 1998 2011