rs587779338, PMS2

N. diseases: 7
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.700 1.000 10 2010 2018
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.700 1.000 9 1995 2016
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.700 1.000 3 2016 2018
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.010 1.000 1 2017 2017
Hereditary Malignant Neoplasm
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
18 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.010 1.000 1 2017 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.010 1.000 1 2017 2017