rs61751402, 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 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05 0.810 1.000 28 1997 2017
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05 0.700 1.000 3 2000 2001
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05 0.700 1.000 1 2019 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05 0.700 1.000 1 2016 2016