rs587779340, 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 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 1.000 6 2008 2015
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 1.000 4 2008 2015
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 1.000 3 2008 2015
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
50 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 1.000 2 2015 2016
Colonic Polyps
CUI: C0009376
Disease: Colonic Polyps
8 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 0
Sarcoma
CUI: C1261473
Disease: Sarcoma
42 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 0