rs80357635, 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 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.700 1.000 17 1998 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.700 1.000 8 1998 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.700 1.000 6 2001 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.700 0
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.010 1.000 1 2010 2010