rs587778134, BRIP1

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.
FANCONI ANEMIA, COMPLEMENTATION GROUP J
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
141 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 6 2011 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 4 2015 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 2 2015 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 0
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 0