rs61753033, 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 94008767 missense variant A/G snv 2.0E-05 0.800 1.000 20 1997 2014
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.882 0.080 1 94008767 missense variant A/G snv 2.0E-05 0.700 0
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.882 0.080 1 94008767 missense variant A/G snv 2.0E-05 0.700 0
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.882 0.080 1 94008767 missense variant A/G snv 2.0E-05 0.010 1.000 1 2002 2002