FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Pheochromocytoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199822819
rs199822819 		0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.700 0