rs1800553, ABCA4

N. diseases: 17
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.
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.830 1.000 19 1997 2019
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.730 1.000 11 1997 2012
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.720 1.000 4 1997 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.700 1.000 5 2000 2016
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.700 1.000 1 1997 1997
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.700 0
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
CUI: C1970573
Disease: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
2 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.700 0
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.060 0.833 6 1999 2019
Disorder of macula of retina
CUI: C0730362
Disease: Disorder of macula of retina
24 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.020 1.000 2 2009 2016
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
10 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.020 1.000 2 2007 2019
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2007 2007
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
33 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019
Visual symptoms
CUI: C0422943
Disease: Visual symptoms
5 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.010 1.000 1 2019 2019