rs80359763, 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.
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.851 0.240 13 32394864 frameshift variant GT/- delins 0.700 1.000 9 1996 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.240 13 32394864 frameshift variant GT/- delins 0.700 1.000 5 1996 2014
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.851 0.240 13 32394864 frameshift variant GT/- delins 0.700 1.000 2 1996 2012
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.851 0.240 13 32394864 frameshift variant GT/- delins 0.700 0
Malignant neoplasm of brain
CUI: C0153633
Disease: Malignant neoplasm of brain
16 0.851 0.240 13 32394864 frameshift variant GT/- delins 0.700 0