rs1800728, 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 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 17 2000 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 10 2000 2014
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 2 2005 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 2 2005 2016
Macular dystrophy, concentric annular
5 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 1 2016 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 1 2019 2019
Macular Degeneration, Age-Related, 2
27 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 0
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 0