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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age related macular degeneration
|
663 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.760 | 1.000 | 7 | 2015 | 2018 | ||||
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
|
5 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.800 | 1.000 | 5 | 2003 | 2015 | ||||
Atypical Hemolytic Uremic Syndrome
|
42 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.020 | 1.000 | 2 | 2008 | 2016 | ||||
BASAL LAMINAR DRUSEN (disorder)
|
5 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
C3 glomerulopathy
|
1 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
Chronic kidney disease stage 5
|
194 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
Drusen
|
18 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
Exudative age-related macular degeneration
|
109 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
exudative macular degeneration
|
69 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
Geographic Atrophy
|
81 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
Kidney Diseases
|
140 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
Kidney Failure, Chronic
|
425 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
Unilateral agenesis of kidney
|
7 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
Unspecified visual loss
|
11 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
Complement Factor H Deficiency
|
9 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.800 | 0 | |||||||
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
|
24 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.700 | 0 |