rs28897743, BRCA2

N. diseases: 5
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.
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
36 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 0 2002 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
802 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.710 1.000 0 2020 2020
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 27 1997 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 26 1997 2018
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 13 2002 2019