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 0.851 0.080 11 61957402 missense variant C/A;T snv 0.800 1.000 20 1998 2019
Autosomal dominant vitreoretinochoroidopathy
CUI: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
6 0.851 0.080 11 61957402 missense variant C/A;T snv 0.700 0
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
32 0.851 0.080 11 61957402 missense variant C/A;T snv 0.700 0
RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
5 0.851 0.080 11 61957402 missense variant C/A;T snv 0.700 0