rs1762111, ABCA4

N. diseases: 5
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 94021934 missense variant A/G snv 1.2E-03 1.3E-03 0.800 1.000 6 1997 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 0.700 1.000 2 1997 2019
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 0.700 1.000 1 2019 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 0.700 0
Macular Degeneration, Age-Related, 2
27 0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03 0.700 0