rs80359550, BRCA2

N. diseases: 8
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.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 1.000 16 1996 2013
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 1.000 16 1996 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 1.000 10 2009 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
37 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 0
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 0
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
21 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 0