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 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 1.000 6 1999 2013
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
78 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 1.000 5 1999 2012
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 1.000 5 1999 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 1.000 5 1999 2012
Malignant neoplasm of brain
CUI: C0153633
Disease: Malignant neoplasm of brain
16 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 0
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 0