rs80359479, BRCA2

N. diseases: 3
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 0.925 0.200 13 32339422 frameshift variant AAAA/-;AAA;AAAAA;AAAAAAAAAA delins 0.700 1.000 14 2001 2014
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.925 0.200 13 32339422 frameshift variant AAAA/-;AAA;AAAAA;AAAAAAAAAA delins 0.700 1.000 14 2000 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 13 32339422 frameshift variant AAAA/-;AAA;AAAAA;AAAAAAAAAA delins 0.700 1.000 9 2001 2017