rs587781682, 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.
Fumarase deficiency
CUI: C0342770
Disease: Fumarase deficiency
90 1.000 0.200 1 241508644 missense variant G/A snv 7.0E-06 0.700 1.000 10 1990 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.200 1 241508644 missense variant G/A snv 7.0E-06 0.700 1.000 10 1997 2011