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 2 47805628 frameshift variant -/T delins 7.0E-06 0.700 1.000 3 2010 2016
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 1.000 0.160 2 47805628 frameshift variant -/T delins 7.0E-06 0.700 1.000 2 2014 2016
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 1.000 0.160 2 47805628 frameshift variant -/T delins 7.0E-06 0.700 1.000 1 2010 2010