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 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.820 1.000 7 2008 2016
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
120 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.810 1.000 19 1998 2012
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.700 1.000 1 2019 2019
Disorder of macula of retina
CUI: C0730362
Disease: Disorder of macula of retina
24 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.010 1.000 1 2012 2012
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04 0.010 1.000 1 2011 2011