rs80357701, BRCA1

N. diseases: 4
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 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 1.000 18 1996 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 1.000 9 1996 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 1.000 6 1996 2017
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 0