rs80357669, BRCA1

N. diseases: 5
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 Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 1.000 12 1996 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 1.000 5 2005 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 1.000 5 2005 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP S
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
28 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 0
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 0