rs201471607, 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 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.810 1.000 26 1997 2019
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.700 1.000 1 2019 2019
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.700 1.000 1 2019 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.700 1.000 1 2019 2019
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.010 1.000 1 2007 2007
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.010 1.000 1 2014 2014
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.010 1.000 1 2018 2018