rs199822819, 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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05 0.700 1.000 8 2003 2015
Fumarase deficiency
CUI: C0342770
Disease: Fumarase deficiency
90 0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05 0.700 1.000 4 2003 2012
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05 0.700 0