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 Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 0.010 1.000 1 2008 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 0.010 1.000 1 2008 2008
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
99 0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 0.010 1.000 1 2014 2014
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
96 0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 0.010 1.000 1 2014 2014