Source: CLINVAR ×
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
6385 1.000 17 58724038 splice acceptor variant A/C;G snv 1.2E-05 0.700 1.000 4 2013 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP O
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
63 1.000 17 58724038 splice acceptor variant A/C;G snv 1.2E-05 0.700 1.000 2 2013 2016