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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adult Glioblastoma
|
98 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1 | 2016 | 2016 | |||||
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
80 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Breast Cancer, Familial
|
91 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
Childhood Glioblastoma
|
98 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1 | 2016 | 2016 | |||||
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
|
1 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
Familial (FPAH)
|
276 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Glioblastoma
|
281 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1 | 2016 | 2016 | |||||
Glioblastoma Multiforme
|
186 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1 | 2016 | 2016 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
2117 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
Malignant neoplasm of prostate
|
1082 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
Malignant Squamous Cell Neoplasm
|
12 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
melanoma
|
515 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
Pancreatic carcinoma, familial
|
9 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
Pancreatic Ductal Adenocarcinoma
|
22 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Squamous cell carcinoma of esophagus
|
329 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
Squamous cell carcinoma of skin
|
92 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
Carcinoma, Ovarian Epithelial
|
327 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
Malignant neoplasm of ovary
|
315 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
Neoplasms
|
1644 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
Malignant Neoplasms
|
1641 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.050 | 1.000 | 5 | 2015 | 2018 | ||||
Primary malignant neoplasm
|
1374 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.050 | 1.000 | 5 | 2015 | 2018 | ||||
Primary malignant neoplasm of lung
|
981 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.050 | 0.800 | 5 | 2014 | 2018 | ||||
Adenocarcinoma of large intestine
|
432 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
Adenocarcinoma of lung (disorder)
|
563 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
374 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |