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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
|
7 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Colonic Polyps
|
8 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
polyps
|
18 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.030 | 1.000 | 3 | 2000 | 2005 | ||||||
Adenomatous Polyps
|
20 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.040 | 1.000 | 4 | 2000 | 2005 | ||||||
Atrial Premature Complexes
|
21 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.060 | 1.000 | 6 | 1998 | 2015 | ||||||
Hyperplastic Polyp
|
22 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
Polyp of large intestine
|
32 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1999 | 2000 | ||||||
Colonic Neoplasms
|
45 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 0.500 | 2 | 1999 | 2005 | ||||||
Lynch Syndrome
|
65 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Turcot syndrome (disorder)
|
75 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
Adenoma
|
103 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.040 | 1.000 | 4 | 1999 | 2007 | ||||||
Carcinoma
|
103 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||||
Adenoma of large intestine
|
213 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 2005 | 2005 | ||||||
Malignant neoplasm of esophagus
|
214 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
Adenomatous Polyposis Coli
|
237 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.060 | 1.000 | 6 | 1998 | 2015 | ||||||
Esophageal Neoplasms
|
270 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
Esophageal carcinoma
|
272 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
Colon Carcinoma
|
275 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.800 | 10 | 1997 | 2004 | ||||||
Familial (FPAH)
|
276 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.040 | 1.000 | 4 | 1998 | 2002 | ||||||
Malignant neoplasm of ovary
|
315 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1997 | 1998 | ||||||
Carcinoma, Ovarian Epithelial
|
327 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1997 | 1998 | ||||||
Carcinogenesis
|
355 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1998 | 2007 | ||||||
Malignant neoplasm of colon and/or rectum
|
502 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.950 | 20 | 1997 | 2007 | ||||||
Inflammatory Bowel Diseases
|
605 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1999 | 2001 | ||||||
Colorectal Neoplasms
|
609 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.030 | 1.000 | 3 | 1998 | 2005 |