rs28897746, BRCA2

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 13 32363259 missense variant T/C snv 0.700 1.000 8 2002 2018
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 1.000 0.120 13 32363259 missense variant T/C snv 0.010 1.000 1 2016 2016