rs61750200, ABCA4

N. diseases: 8
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 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.800 1.000 20 1997 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.800 1.000 6 1998 2001
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.700 0
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.700 0
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.020 1.000 2 1998 1999
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.010 1.000 1 1999 1999
Autosomal recessive retinitis pigmentosa
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
31 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.010 1.000 1 2004 2004
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.790 0.080 1 94098928 missense variant G/A;T snv 1.1E-04; 8.0E-06 0.010 1.000 1 2001 2001