rs80359604, BRCA2

N. diseases: 10
Source: CLINVAR ×
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
2106 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 1.000 14 1998 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 1.000 9 1998 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 1.000 6 1998 2017
bilateral breast cancer
CUI: C0281267
Disease: bilateral breast cancer
8 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2273 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
36 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
GLIOMA SUSCEPTIBILITY 3
CUI: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
22 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
802 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
80 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
48 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 0