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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Malignant neoplasm of colon and/or rectum
|
502 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||||
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 | ||||||
Carcinoma, Large Cell
|
6 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Intrahepatic Cholangiocarcinoma
|
19 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
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 | ||||||
Liver carcinoma
|
942 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Lung Neoplasms
|
39 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1 | 2018 | 2018 | |||||||
Multiple polyps
|
32 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1 | 2018 | 2018 | |||||||
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 | ||||||
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 | ||||||
Squamous cell carcinoma
|
257 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Brain Neoplasms
|
204 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Leukemia, Myelomonocytic, Chronic
|
28 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
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 | ||||||
Adenocarcinoma
|
168 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2016 | 2018 | ||||||
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
80 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Conventional (Clear Cell) Renal Cell Carcinoma
|
222 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
melanoma
|
515 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Sebaceous adenoma
|
6 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
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 | ||||||
Colorectal Carcinoma
|
1962 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.040 | 0.750 | 4 | 2015 | 2019 | ||||||
Endocardial Cushion Defects
|
4 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |