rs80357367, 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 43057090 stop gained G/A snv 0.700 1.000 3 2005 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.851 0.200 17 43057090 stop gained G/A snv 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 17 43057090 stop gained G/A snv 0.700 0
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
99 0.851 0.200 17 43057090 stop gained G/A snv 0.010 1.000 1 2014 2014
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
96 0.851 0.200 17 43057090 stop gained G/A snv 0.010 1.000 1 2014 2014