rs587781948, BARD1

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 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 2016 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 2013 2017
Triple-Negative Breast Cancer Finding
CUI: C2348819
Disease: Triple-Negative Breast Cancer Finding
2 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.700 0
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
99 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2016 2016
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
96 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2016 2016