rs587780064, PMS2

N. diseases: 2
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 7 5989956 splice acceptor variant C/A snv 4.1E-06 0.700 1.000 5 2009 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 7 5989956 splice acceptor variant C/A snv 4.1E-06 0.700 1.000 5 2009 2015