rs367543046, FH

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 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03 0.700 1.000 16 1997 2015
Fumarase deficiency
CUI: C0342770
Disease: Fumarase deficiency
90 1.000 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03 0.700 1.000 7 1997 2013