rs62645944, ABCA4

N. diseases: 7
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 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.710 1.000 9 1999 2017
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.710 1.000 2 2004 2019
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.700 1.000 1 2019 2019
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.700 0
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
27 0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.700 0
RETINITIS PIGMENTOSA 19
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
22 0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.700 0
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.010 1.000 1 2004 2004