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 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.820 | 1.000 | 38 | 1990 | 2018 | |||||
LI-FRAUMENI SYNDROME 1
|
39 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 14 | 1992 | 2016 | |||||
Malignant Neoplasms
|
1641 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.100 | 0.923 | 13 | 1993 | 2019 | |||||
Primary malignant neoplasm
|
1374 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.100 | 1.000 | 12 | 2005 | 2019 | |||||
Neoplasms
|
1644 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.780 | 1.000 | 9 | 1995 | 2020 | |||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 9 | 2000 | 2017 | |||||
Glioblastoma
|
281 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.740 | 1.000 | 5 | 2009 | 2018 | |||||
Adult Glioblastoma
|
98 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||||
Breast Carcinoma
|
2793 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.040 | 1.000 | 4 | 2011 | 2020 | |||||
Carcinogenesis
|
355 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.040 | 1.000 | 4 | 2005 | 2018 | |||||
Childhood Glioblastoma
|
98 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||||
Colorectal Carcinoma
|
1962 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.740 | 1.000 | 4 | 2017 | 2019 | |||||
Glioblastoma Multiforme
|
186 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||||
Leukemia, Myelocytic, Acute
|
6892 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 4 | 2014 | 2016 | |||||
Malignant neoplasm of breast
|
3417 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.740 | 1.000 | 4 | 2011 | 2020 | |||||
Carcinoma of lung
|
1204 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.030 | 0.667 | 3 | 1993 | 2019 | |||||
Malignant neoplasm of lung
|
1142 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.030 | 0.667 | 3 | 1993 | 2019 | |||||
Mammary Neoplasms
|
385 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 3 | 1998 | 2016 | |||||
Primary malignant neoplasm of lung
|
981 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.030 | 0.667 | 3 | 1993 | 2019 | |||||
Tumor Cell Invasion
|
169 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.030 | 1.000 | 3 | 2007 | 2017 | |||||
Adrenocortical carcinoma
|
46 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.710 | 0.500 | 2 | 2005 | 2016 | |||||
Adult Rhabdomyosarcoma
|
12 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.020 | 1.000 | 2 | 1997 | 2011 | |||||
Anaplastic thyroid carcinoma
|
16 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.720 | 1.000 | 2 | 2005 | 2009 | |||||
Childhood Osteosarcoma
|
151 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.020 | 1.000 | 2 | 2007 | 2012 | |||||
Childhood Rhabdomyosarcoma
|
12 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.020 | 1.000 | 2 | 1997 | 2011 |