rs28938473, ABCA4

N. diseases: 4
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 0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03 0.800 1.000 8 1997 2017
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03 0.700 1.000 2 1997 2009
Vitreoretinal degeneration
CUI: C0344290
Disease: Vitreoretinal degeneration
6 0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03 0.700 1.000 1 2019 2019
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.882 0.040 1 94007731 missense variant G/A snv 3.0E-03 3.6E-03 0.700 0