rs80359596, BRCA2

N. diseases: 6
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.
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 0.700 1.000 15 1997 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 0.700 1.000 12 1997 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 0.700 0