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.
Multiple fibrofolliculomas
CUI: C0346010
Disease: Multiple fibrofolliculomas
92 1.000 0.080 17 17215237 frameshift variant GA/- delins 0.700 1.000 6 2005 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.080 17 17215237 frameshift variant GA/- delins 0.700 1.000 5 2005 2016