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.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
CUI: C3280345
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
47 0.925 0.200 17 35101356 frameshift variant G/- delins 4.0E-06 0.700 1.000 2 2015 2015
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.925 0.200 17 35101356 frameshift variant G/- delins 4.0E-06 0.700 1.000 2 2015 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 17 35101356 frameshift variant G/- delins 4.0E-06 0.700 1.000 2 2011 2015