rs876659736, PMS2

N. diseases: 4
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.
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.200 7 5995612 missense variant T/A;C snv 8.0E-06 0.700 1.000 5 2011 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 7 5995612 missense variant T/A;C snv 8.0E-06 0.700 1.000 5 2011 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
50 0.925 0.200 7 5995612 missense variant T/A;C snv 8.0E-06 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.925 0.200 7 5995612 missense variant T/A;C snv 8.0E-06 0.700 0