rs886040456, 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 0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 0.700 1.000 1 2015 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 0.700 1.000 1 2015 2015
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 0.010 1.000 1 2008 2008
melanoma
CUI: C0025202
Disease: melanoma
515 0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 0.010 1 2008 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 0.010 1.000 1 2008 2008