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 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.900 | 0.977 | 44 | 1990 | 2020 | |||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.710 | 1.000 | 19 | 2001 | 2017 | |||||
Mammary Neoplasms
|
385 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
LI-FRAUMENI SYNDROME 1
|
39 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 2000 | 2016 | |||||
Adrenocortical Carcinoma, Pediatric
|
2 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
ovarian neoplasm
|
757 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
Squamous cell carcinoma of the head and neck
|
348 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
Malignant Neoplasms
|
1641 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.100 | 0.941 | 17 | 2005 | 2018 | |||||
Neoplasms
|
1644 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.100 | 0.875 | 16 | 2001 | 2020 | |||||
Primary malignant neoplasm
|
1374 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.100 | 0.933 | 15 | 2005 | 2018 | |||||
Malignant neoplasm of breast
|
3417 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.080 | 1.000 | 8 | 2007 | 2016 | |||||
Adrenocortical carcinoma
|
46 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.070 | 1.000 | 7 | 2003 | 2016 | |||||
Agenesis of corpus callosum
|
45 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.070 | 1.000 | 7 | 2001 | 2016 | |||||
Aplasia Cutis Congenita
|
14 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.070 | 1.000 | 7 | 2001 | 2016 | |||||
Breast Carcinoma
|
2793 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.070 | 1.000 | 7 | 2008 | 2016 | |||||
Carcinogenesis
|
355 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.050 | 1.000 | 5 | 2005 | 2018 | |||||
Li-Fraumeni-Like Syndrome
|
8 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.050 | 1.000 | 5 | 2011 | 2019 | |||||
Tumors of Adrenal Cortex
|
5 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.050 | 1.000 | 5 | 2005 | 2018 | |||||
Choroid Plexus Carcinoma
|
11 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.040 | 1.000 | 4 | 2011 | 2015 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
2117 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
Neoplasm Metastasis
|
327 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2001 | 2011 | |||||
Osteosarcoma
|
178 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
Adult Ependymoma
|
3 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
Bone Sarcoma
|
4 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
Breast adenocarcinoma
|
7 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 |