rs1801155, APC

N. diseases: 42
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 1, SUSCEPTIBILITY TO
CUI: C4017262
Disease: 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
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
CUI: C2674616
Disease: 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
Colonic Polyps
CUI: C0009376
Disease: 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
COLORECTAL CANCER, SUSCEPTIBILITY TO
CUI: C1858438
Disease: 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
bilateral breast cancer
CUI: C0281267
Disease: 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
polyps
CUI: C0032584
Disease: 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
Adenomatous Polyps
CUI: C0206677
Disease: 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
Atrial Premature Complexes
CUI: C0033036
Disease: 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
Hyperplastic Polyp
CUI: C0333983
Disease: 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
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: 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
Polyp of large intestine
CUI: C0949059
Disease: 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
Colonic Neoplasms
CUI: C0009375
Disease: 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
Lynch Syndrome
CUI: C4552100
Disease: 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
Turcot syndrome (disorder)
CUI: C0265325
Disease: 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
Adenoma
CUI: C0001430
Disease: 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
Carcinoma
CUI: C0007097
Disease: 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
Adenoma of large intestine
CUI: C1302401
Disease: 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
Malignant neoplasm of esophagus
CUI: C0546837
Disease: 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
Adenomatous Polyposis Coli
CUI: C0032580
Disease: 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
Esophageal Neoplasms
CUI: C0014859
Disease: 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
Esophageal carcinoma
CUI: C0152018
Disease: 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
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.100 0.800 10 1997 2004
Familial (FPAH)
CUI: C1611743
Disease: 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
Malignant neoplasm of ovary
CUI: C1140680
Disease: 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
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: 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