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)
|
317 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.830 | 1.000 | 19 | 1997 | 2019 | ||||
Stargardt's disease
|
24 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.730 | 1.000 | 11 | 1997 | 2012 | ||||
Macular dystrophy
|
59 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.720 | 1.000 | 4 | 1997 | 2019 | ||||
CONE-ROD DYSTROPHY 3 (disorder)
|
53 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.700 | 1.000 | 5 | 2000 | 2016 | ||||
Retinal Dystrophies
|
227 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||
Macular Degeneration, Age-Related, 2
|
27 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.700 | 0 | |||||||
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
|
2 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.700 | 0 | |||||||
Age related macular degeneration
|
663 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.060 | 0.833 | 6 | 1999 | 2019 | ||||
Disorder of macula of retina
|
24 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||
Hereditary macular dystrophy
|
10 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.020 | 1.000 | 2 | 2007 | 2019 | ||||
Cone-Rod Dystrophies
|
53 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Cone-Rod Dystrophy 2
|
51 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Cystic Fibrosis
|
704 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Muscular Dystrophy
|
67 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
Retinal Diseases
|
56 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Rod-Cone Dystrophy
|
33 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Visual symptoms
|
5 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 |