rs61748558, 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 0.827 0.080 1 94063224 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 19 1997 2014
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.827 0.080 1 94063224 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 1 2001 2001
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.827 0.080 1 94063224 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.827 0.080 1 94063224 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Sectoral retinitis pigmentosa
CUI: C4477018
Disease: Sectoral retinitis pigmentosa
1 0.827 0.080 1 94063224 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0