Source: CLINVAR ×
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.
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
56 0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins 0.700 1.000 3 2008 2015
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins 0.700 1.000 3 2008 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins 0.700 1.000 2 2011 2014
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1268 0.925 0.160 2 47806254 frameshift variant AGAA/-;AGAAAAGAA;AGAAAGAA delins 0.700 1.000 1 2014 2014