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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
bilateral breast cancer
|
17 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.700 | 0 | |||||||
BREAST CANCER, SUSCEPTIBILITY TO
|
24 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.700 | 0 | |||||||
COLORECTAL CANCER, SUSCEPTIBILITY TO
|
8 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.700 | 0 | |||||||
FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO
|
1 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.700 | 0 | |||||||
Colonic Polyps
|
8 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
Esophageal carcinoma
|
272 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
Esophageal Neoplasms
|
270 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
7 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
Hyperplastic Polyp
|
22 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
Lynch Syndrome
|
65 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
Malignant neoplasm of esophagus
|
214 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
Turcot syndrome (disorder)
|
75 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
Malignant neoplasm of breast
|
3417 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.720 | 1.000 | 2 | 1998 | 1999 | ||||
Malignant neoplasm of ovary
|
315 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.720 | 1.000 | 2 | 1997 | 1998 | ||||
Adenoma of large intestine
|
213 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2005 | 2005 | ||||
Breast Carcinoma
|
2793 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 0.500 | 2 | 1998 | 1999 | ||||
Carcinogenesis
|
355 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 1998 | 2007 | ||||
Carcinoma
|
103 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||
Carcinoma, Ovarian Epithelial
|
327 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 1997 | 1998 | ||||
Colonic Neoplasms
|
45 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 0.500 | 2 | 1999 | 2005 | ||||
Hereditary Nonpolyposis Colorectal Cancer
|
1331 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2005 | 2017 | ||||
Inflammatory Bowel Diseases
|
605 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 1999 | 2001 | ||||
ovarian neoplasm
|
757 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 1997 | 1998 | ||||
Polyp of large intestine
|
32 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 1999 | 2000 | ||||
Colorectal Neoplasms
|
609 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.030 | 1.000 | 3 | 1998 | 2005 |