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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Split hand foot deformity 1
|
8 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Adenocarcinoma of lung (disorder)
|
563 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.730 | 1.000 | 5 | 2014 | 2019 | ||||||
Malignant neoplasm of pancreas
|
277 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||||
Pancreatic carcinoma
|
322 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||||
MUTYH-Associate Polyposis
|
36 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||||
polyps
|
18 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||||
Familial medullary thyroid carcinoma
|
45 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Medullary carcinoma of thyroid
|
71 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Mucinous Adenocarcinoma
|
10 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Adenomatous Polyposis Coli
|
237 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||
Adenoma
|
103 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Neoplasm Metastasis
|
327 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Neurilemmoma
|
11 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Malignant Neoplasms
|
1641 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.050 | 1.000 | 5 | 2012 | 2020 | ||||||
Primary malignant neoplasm
|
1374 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2012 | 2020 | ||||||
Neoplasms
|
1644 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.100 | 1.000 | 15 | 2011 | 2019 | ||||||
Carcinoma of lung
|
1204 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.880 | 1.000 | 8 | 2011 | 2019 | ||||||
Malignant neoplasm of lung
|
1142 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.770 | 1.000 | 7 | 2011 | 2019 | ||||||
Primary malignant neoplasm of lung
|
981 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.070 | 1.000 | 7 | 2011 | 2019 | ||||||
ovarian neoplasm
|
757 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||||
Thyroid Neoplasm
|
135 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2007 | 2013 | ||||||
Juvenile Myelomonocytic Leukemia
|
70 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2007 | 2012 | ||||||
Cardio-facio-cutaneous syndrome
|
82 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Costello syndrome (disorder)
|
24 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Noonan Syndrome
|
187 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |