rs80359777, BRCA2

N. diseases: 5
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 0.851 0.240 13 32332466 frameshift variant AA/-;A;AAA;AAAA delins 0.700 1.000 2 1999 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.240 13 32332466 frameshift variant AA/-;A;AAA;AAAA delins 0.700 1.000 1 1999 1999
Neuroendocrine tumor of pancreas
CUI: C4305467
Disease: Neuroendocrine tumor of pancreas
2 0.851 0.240 13 32332466 frameshift variant AA/-;A;AAA;AAAA delins 0.700 1.000 1 2004 2004
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.851 0.240 13 32332466 frameshift variant AA/-;A;AAA;AAAA delins 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.851 0.240 13 32332466 frameshift variant AA/-;A;AAA;AAAA delins 0.700 0