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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Alzheimer disease, familial, type 3
|
124 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.800 | 1.000 | 29 | 1995 | 2018 | ||||||
ACNE INVERSA, FAMILIAL, 3
|
15 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.700 | 1.000 | 6 | 1995 | 2017 | ||||||
Frontotemporal dementia
|
215 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.700 | 1.000 | 6 | 1995 | 2017 | ||||||
Pick Disease of the Brain
|
83 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.700 | 1.000 | 6 | 1995 | 2017 | ||||||
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
|
2 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Alzheimer's Disease
|
1843 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.100 | 0.955 | 22 | 1997 | 2020 | ||||||
Familial Alzheimer Disease (FAD)
|
95 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.100 | 1.000 | 14 | 1996 | 2019 | ||||||
Alzheimer Disease, Early Onset
|
96 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.050 | 1.000 | 5 | 1997 | 2016 | ||||||
Dementia
|
176 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2000 | 2016 | ||||||
Familial Alzheimer's disease of early onset
|
33 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||||
Presenile dementia
|
159 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2000 | 2016 | ||||||
Cerebral atrophy
|
44 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||||
Mild cognitive disorder
|
96 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||||
Amyloidosis
|
93 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Brain atrophy
|
46 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Cerebellar Ataxia
|
120 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Cerebellar Diseases
|
4 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Cerebral cortical atrophy
|
13 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Epilepsy
|
339 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
Epileptic Seizures
|
7 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
Familial (FPAH)
|
276 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Mental disorders
|
149 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Seizures
|
553 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |