rs587781321, BRIP1

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.
FANCONI ANEMIA, COMPLEMENTATION GROUP J
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
141 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 6 2014 2016
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 5 2014 2018
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 5 2014 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05 0.700 1.000 3 2014 2016