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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Anaplastic Oligoastrocytoma
|
4 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
Anaplastic Oligodendroglioma
|
7 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
Childhood Anaplastic Oligoastrocytoma
|
4 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
Childhood Gliomatosis Cerebri
|
6 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
Childhood Oligoastrocytoma
|
3 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
Childhood Pleomorphic Xanthoastrocytoma
|
7 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||||
Enchondroma
|
13 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
Epilepsy
|
339 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2018 | |||||
Gliomatosis cerebri
|
6 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
Mixed Oligodendroglioma-Astrocytoma
|
3 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
MYELODYSPLASTIC SYNDROME
|
95 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2016 | 2018 | |||||
Pilocytic Astrocytoma
|
14 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
Pleomorphic Xanthoastrocytoma
|
8 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||||
Seizures
|
553 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||||
Adenocarcinoma of lung (disorder)
|
563 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Adenocarcinoma of prostate
|
108 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Adenoid Cystic Carcinoma
|
30 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Adult Anaplastic Oligodendroglioma
|
4 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
Adult Ependymoma
|
3 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
Adult Pilocytic Astrocytoma
|
10 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Angiocentric glioma
|
3 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1 | 2012 | 2012 | ||||||
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
19 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Atypical Lipoma
|
2 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Brain Stem Glioma
|
45 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Brain Tumor, Primary
|
8 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |