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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Acute monoblastic leukemia
|
5 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Acute monocytic leukemia
|
22 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Adenocarcinoma of lung (disorder)
|
563 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Adenocarcinoma of pancreas
|
138 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Adenocarcinoma of prostate
|
108 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Adenoid Cystic Carcinoma
|
30 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Adult Acute Monoblastic Leukemia
|
5 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Adult Pilocytic Astrocytoma
|
10 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Arthrogryposis
|
33 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Brain Neoplasms
|
204 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||||
Carcinogenesis
|
355 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2011 | 2015 | ||||||
Carcinoma of bladder
|
309 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Carcinoma of lung
|
1204 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Cardiac Arrhythmia
|
111 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Childhood Acute Monoblastic Leukemia
|
5 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Childhood Leukemia
|
140 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Childhood Pilocytic Astrocytoma
|
10 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Chronic myeloproliferative disorder
|
47 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Colorectal Carcinoma
|
1962 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1 | 1999 | 1999 | |||||||
Colorectal Neoplasms
|
609 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Costello syndrome (disorder)
|
24 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.840 | 1.000 | 23 | 1990 | 2019 | ||||||
COSTELLO SYNDROME, SEVERE
|
1 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Cutaneous Melanoma
|
248 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Ductal Carcinoma
|
11 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Esophageal carcinoma
|
272 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2016 |