rs587780240, BRIP1

N. diseases: 2
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 17 61715948 splice donor variant -/A delins 1.6E-05 2.8E-05 0.700 1.000 5 2004 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
141 1.000 0.120 17 61715948 splice donor variant -/A delins 1.6E-05 2.8E-05 0.700 1.000 3 2005 2016