rs267608160, 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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 7 5977669 frameshift variant GAAG/- del 0.700 1.000 2 2000 2011
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.200 7 5977669 frameshift variant GAAG/- del 0.700 1.000 1 2000 2000
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.925 0.200 7 5977669 frameshift variant GAAG/- del 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.925 0.200 7 5977669 frameshift variant GAAG/- del 0.700 0