rs267608161, PMS2

N. diseases: 6
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.
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.710 1.000 6 1995 2016
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 1.000 12 2006 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
50 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 1.000 10 1999 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 1.000 8 1997 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 0
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 0