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 Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
154 0.882 0.160 3 36993632 missense variant G/T snv 0.700 1.000 35 1996 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.160 3 36993632 missense variant G/T snv 0.700 1.000 9 2003 2015
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.882 0.160 3 36993632 missense variant G/T snv 0.010 1.000 1 2014 2014
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.882 0.160 3 36993632 missense variant G/T snv 0.010 1.000 1 2014 2014