rs1060499641, FH

N. diseases: 3
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 0.925 0.320 1 241504109 frameshift variant A/- del 0.700 0
Hereditary Leiomyomatosis and Renal Cell Cancer
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
59 0.925 0.320 1 241504109 frameshift variant A/- del 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.320 1 241504109 frameshift variant A/- del 0.700 0