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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Li-Fraumeni Syndrome
|
206 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.800 | 1.000 | 25 | 1990 | 2017 | ||||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.700 | 1.000 | 7 | 1996 | 2011 | ||||||
LI-FRAUMENI SYNDROME 1
|
39 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 1997 | 2011 | ||||||
Neoplasms
|
1644 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 2008 | 2019 | ||||||
Breast Carcinoma
|
2793 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2005 | 2011 | ||||||
Malignant neoplasm of breast
|
3417 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2005 | 2011 | ||||||
Carcinogenesis
|
355 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Cervical Intraepithelial Neoplasia
|
29 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Chronic Lymphocytic Leukemia
|
291 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Colonic Neoplasms
|
45 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
Colorectal Carcinoma
|
1962 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
Diffuse Large B-Cell Lymphoma
|
127 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Esophageal carcinoma
|
272 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Esophageal Neoplasms
|
270 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Fast acetylator due to N-acetyltransferase enzyme variant
|
9 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Indian childhood cirrhosis
|
6 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Infiltrating Cervical Carcinoma
|
13 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Intrahepatic Cholangiocarcinoma
|
19 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Liver carcinoma
|
942 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Lymphoma
|
91 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Malignant neoplasm of esophagus
|
214 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Methylenetetrahydrofolate reductase polymorphism
|
7 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
precancerous lesions
|
19 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Secondary malignant neoplasm of colon and/or rectum
|
68 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Secondary malignant neoplasm of liver
|
34 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |