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 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.820 | 1.000 | 28 | 1990 | 2017 | |||||
Neoplasms
|
1644 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.780 | 0.909 | 11 | 2000 | 2019 | |||||
Malignant neoplasm of breast
|
3417 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.750 | 1.000 | 5 | 2011 | 2018 | |||||
Liver carcinoma
|
942 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | 1 | 2017 | 2017 | ||||||
Osteosarcoma
|
178 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 16 | 1994 | 2016 | |||||
LI-FRAUMENI SYNDROME 1
|
39 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 1997 | 2014 | |||||
ADRENOCORTICAL CARCINOMA, HEREDITARY
|
7 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
|
7 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Choroid Plexus Papilloma
|
17 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Colorectal Carcinoma
|
1962 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
GLIOMA SUSCEPTIBILITY 1
|
14 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Malignant neoplasm of esophagus
|
214 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Nasopharyngeal carcinoma
|
320 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
ovarian neoplasm
|
757 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Pancreatic carcinoma
|
322 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Breast Carcinoma
|
2793 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 2009 | 2018 | |||||
Malignant Neoplasms
|
1641 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 2013 | 2019 | |||||
Primary malignant neoplasm
|
1374 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 2013 | 2019 | |||||
Tumor Cell Invasion
|
169 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||||
Carcinoma of lung
|
1204 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2011 | 2017 | |||||
Malignant neoplasm of lung
|
1142 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2011 | 2017 | |||||
Primary malignant neoplasm of lung
|
981 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2011 | 2017 | |||||
melanoma
|
515 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
Adenocarcinoma Of Esophagus
|
81 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |