rs80357914, BRCA1;NBR2

N. diseases: 7
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 23 1995 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 22 1994 2018
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 10 1995 2014
increased risk of pancreatic cancer
CUI: C1842408
Disease: increased risk of pancreatic cancer
6 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 0
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
22 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 0