rs80357783, NBR2;BRCA1

N. diseases: 6
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 43124030 frameshift variant -/T delins 4.0E-06 0.700 1.000 8 1995 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 0.700 1.000 4 1996 2015
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 0.700 1.000 3 2006 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 0.700 1.000 1 2016 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 0.700 0