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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adenoma
|
103 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
Adenoma of large intestine
|
213 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Adenomatous Polyposis Coli
|
237 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.030 | 1.000 | 3 | 2003 | 2008 | ||||
Adenomatous Polyps
|
20 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.020 | 0.500 | 2 | 2004 | 2006 | ||||
Breast Carcinoma
|
2793 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.030 | 0.667 | 3 | 2009 | 2019 | ||||
Carcinogenesis
|
355 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
Cholangiocarcinoma
|
43 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
Colon Carcinoma
|
275 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
112 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.800 | 1.000 | 43 | 2002 | 2016 | ||||
Colorectal Carcinoma
|
1962 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.800 | 0.941 | 17 | 2002 | 2019 | ||||
Congenital contractural arachnodactyly
|
48 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
Endometrial Carcinoma
|
326 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.700 | 0 | |||||||
Familial (FPAH)
|
276 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
|
1 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.700 | 0 | |||||||
Inflammatory Bowel Diseases
|
605 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
Liver carcinoma
|
942 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
Malignant neoplasm of breast
|
3417 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.030 | 0.667 | 3 | 2009 | 2019 | ||||
Malignant neoplasm of colon and/or rectum
|
502 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.030 | 1.000 | 3 | 2004 | 2011 | ||||
Malignant Neoplasms
|
1641 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
Malignant tumor of colon
|
688 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
melanoma
|
515 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
Multiple polyps
|
32 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
MUTYH-Associate Polyposis
|
36 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.770 | 1.000 | 14 | 2005 | 2017 | ||||
Neoplasms
|
1644 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.700 | 1.000 | 13 | 2009 | 2015 |