rs1463038513, APC

N. diseases: 36
Source: ALL
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
CUI: C0009376
Disease: Colonic Polyps
8 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 2005 2005
polyps
CUI: C0032584
Disease: polyps
18 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 2000 2005
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
20 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.040 1.000 4 2000 2005
Atrial Premature Complexes
CUI: C0033036
Disease: Atrial Premature Complexes
21 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.060 1.000 6 1998 2015
Hyperplastic Polyp
CUI: C0333983
Disease: Hyperplastic Polyp
22 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 2000 2000
Polyp of large intestine
CUI: C0949059
Disease: Polyp of large intestine
32 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1999 2000
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
45 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 0.500 2 1999 2005
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 2017 2017
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.040 1.000 4 1999 2007
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 2003 2005
Adenoma of large intestine
CUI: C1302401
Disease: 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
CUI: C0546837
Disease: 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
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.060 1.000 6 1998 2015
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
270 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.040 1.000 4 1998 2002
Malignant neoplasm of ovary
CUI: C1140680
Disease: 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
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1997 1998
Carcinogenesis
CUI: C0596263
Disease: 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
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1999 2001
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.030 1.000 3 1998 2005