rs148060787, BEST1;FTH1

N. diseases: 5
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 61962853 missense variant C/G;T snv 4.4E-04 0.020 1.000 2 2001 2007
Disorder of macula of retina
CUI: C0730362
Disease: Disorder of macula of retina
24 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2001 2001
Drusen
CUI: C1260959
Disease: Drusen
18 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2001 2001
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2001 2001
Soft drusen
CUI: C1720452
Disease: Soft drusen
5 0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2001 2001