rs61751374, ABCA4

N. diseases: 10
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 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.820 1.000 32 1997 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.800 1.000 3 2000 2001
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.710 1.000 12 1997 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.710 1.000 2 2008 2019
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.700 1.000 1 2019 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.700 1.000 1 1997 1997
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.700 0
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.700 0
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.020 1.000 2 2000 2007
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.010 1.000 1 2019 2019