rs1060503115, PMS2

N. diseases: 13
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.
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.763 0.400 7 5978664 missense variant T/A;G snv 0.100 0.900 10 2008 2019
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.763 0.400 7 5978664 missense variant T/A;G snv 0.090 0.889 9 2007 2019
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.763 0.400 7 5978664 missense variant T/A;G snv 0.070 0.857 7 2012 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.763 0.400 7 5978664 missense variant T/A;G snv 0.040 0.750 4 2011 2018
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.763 0.400 7 5978664 missense variant T/A;G snv 0.030 1.000 3 2011 2019
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.763 0.400 7 5978664 missense variant T/A;G snv 0.030 1.000 3 2008 2014
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.763 0.400 7 5978664 missense variant T/A;G snv 0.020 1.000 2 2014 2019
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2011 2011
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2011 2011
Microsatellite instability-high colorectal cancer
CUI: C4544822
Disease: Microsatellite instability-high colorectal cancer
4 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2013 2013
MOHR-TRANEBJAERG SYNDROME
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
19 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1 2014 2014
MSI-high
CUI: C4523846
Disease: MSI-high
9 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2015 2015
Sessile Serrated Adenoma/Polyp
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
6 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2013 2013