rs80359306, BRCA2

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 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 23 1997 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 21 1996 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 7 1996 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0
Lymphoma, Non-Hodgkin, Familial
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
79 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 0