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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Papillary and follicular adenocarcinoma
|
2 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Papillary carcinoma, clear cell
|
2 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Poorly differentiated carcinoma
|
2 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Endocardial Cushion Defects
|
4 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Carcinoma, Large Cell
|
6 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Sebaceous adenoma
|
6 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Gestational Trophoblastic Neoplasms
|
7 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
|
8 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
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 | ||||||
Mucinous Adenocarcinoma
|
10 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Primary cholangiocarcinoma of intrahepatic biliary tract
|
10 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Neurilemmoma
|
11 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Thyroid Nodule
|
17 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
polyps
|
18 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||||
Secondary malignant neoplasm of bone
|
18 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
B-CELL MALIGNANCY, LOW-GRADE
|
19 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||
Intrahepatic Cholangiocarcinoma
|
19 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Congenital arteriovenous malformation
|
23 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Neoplasm, Residual
|
23 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Costello syndrome (disorder)
|
24 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Leukemia, Myelomonocytic, Chronic
|
28 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Adenoid Cystic Carcinoma
|
30 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Multiple polyps
|
32 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1 | 2018 | 2018 | |||||||
Secondary malignant neoplasm of liver
|
34 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 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 |