rs80359454, BRCA2

N. diseases: 4
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.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.882 0.200 13 32338828 frameshift variant AAAG/- delins 0.700 1.000 10 1996 2014
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.200 13 32338828 frameshift variant AAAG/- delins 0.700 1.000 7 1996 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 13 32338828 frameshift variant AAAG/- delins 0.700 1.000 6 1996 2016
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
9 0.882 0.200 13 32338828 frameshift variant AAAG/- delins 0.700 0