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 61955742 missense variant C/A;T snv 6.9E-06 0.710 1.000 19 1998 2018
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
32 0.925 0.080 11 61955742 missense variant C/A;T snv 6.9E-06 0.010 1.000 1 2018 2018