rs587781339, PMS2

N. diseases: 3
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 1.000 0.160 7 5992059 splice acceptor variant T/C;G snv 0.700 1.000 3 2014 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
50 1.000 0.160 7 5992059 splice acceptor variant T/C;G snv 0.700 1.000 2 2014 2017
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 1.000 0.160 7 5992059 splice acceptor variant T/C;G snv 0.700 1.000 2 2011 2014