rs63750875, MSH2

N. diseases: 15
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 cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
179 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.800 1.000 20 2001 2017
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.760 1.000 12 2004 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.700 1.000 14 1999 2016
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.700 1.000 10 2002 2014
Torre-Muir syndrome
CUI: C1321489
Disease: Torre-Muir syndrome
20 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.040 1.000 4 2004 2011
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.030 1.000 3 2004 2008
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.030 1.000 3 2004 2008
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.020 1.000 2 2008 2011
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.020 1.000 2 2008 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.020 1.000 2 2004 2008
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2003 2003
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2011 2011
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2003 2003