rs1060500903, FH

N. diseases: 1
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 241500480 frameshift variant C/- del 0.700 0