rs61750641, ABCA4

N. diseases: 7
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 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.800 1.000 24 1997 2017
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 1.000 1 2019 2019
Progressive cone dystrophy (without rod involvement)
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
6 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 1.000 1 2019 2019
Vitreoretinal degeneration
CUI: C0344290
Disease: Vitreoretinal degeneration
6 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 1.000 1 2019 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 0
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 0
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 0