rs878853297, BRCA2

N. diseases: 4
Source: CURATED ×
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.
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
316 0.925 0.200 13 32319166 frameshift variant AA/-;A;AAA delins 0.700 1.000 1 2016 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 0.200 13 32319166 frameshift variant AA/-;A;AAA delins 0.700 1.000 1 2016 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.925 0.200 13 32319166 frameshift variant AA/-;A;AAA delins 0.700 0
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.925 0.200 13 32319166 frameshift variant AA/-;A;AAA delins 0.700 0