rs1801269, 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 0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06 0.810 1.000 6 1997 2017
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06 0.800 0
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06 0.700 0
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.851 0.080 1 94041345 missense variant C/A;T snv 3.1E-04; 4.0E-06 0.700 0