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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||||
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 | ||||
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 | ||||
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 | ||||
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 | ||||
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 | ||||
Adenomatous Polyps
|
20 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.040 | 1.000 | 4 | 2000 | 2005 | ||||
Malignant neoplasm of prostate
|
1082 | 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 | 2000 | 2006 | ||||
polyps
|
18 | 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 | 2000 | 2005 | ||||
Prostate carcinoma
|
1168 | 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 | 2000 | 2006 | ||||
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 | ||||
Adenoma
|
103 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.050 | 1.000 | 5 | 1999 | 2014 | ||||
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 | ||||
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 | ||||
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 | ||||
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 | ||||
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 Neoplasms
|
1641 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.100 | 0.824 | 17 | 1998 | 2016 | ||||
Primary malignant neoplasm
|
1374 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.100 | 0.813 | 16 | 1998 | 2016 | ||||
Neoplasms
|
1644 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.100 | 0.846 | 13 | 1998 | 2014 | ||||
Adenomatous Polyposis Coli
|
237 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.060 | 1.000 | 6 | 1998 | 2015 | ||||
Atrial Premature Complexes
|
21 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.060 | 1.000 | 6 | 1998 | 2015 | ||||
Familial (FPAH)
|
276 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.040 | 1.000 | 4 | 1998 | 2002 |