rs11571658, BRCA2

N. diseases: 5
Source: CLINVAR ×
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 32340630 frameshift variant TT/- del 2.8E-05 0.700 1.000 15 1996 2012
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 1.000 15 1996 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 1.000 14 1996 2016
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
11 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 0
Thyroid papillary adenoma
CUI: C4023192
Disease: Thyroid papillary adenoma
1 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 0