FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
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: rs121913123
rs121913123 		0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2002 2015
dbSNP: rs121913123
rs121913123 		0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 8 2002 2012
dbSNP: rs121913123
rs121913123 		0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.800 1.000 5 1994 2015
dbSNP: rs121913123
rs121913123 		0.882 0.360 1 241508643 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121913121
rs121913121 		0.851 0.320 1 241513661 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 2002 2016
dbSNP: rs863223966
rs863223966 		0.925 0.320 1 241504057 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2003 2014
dbSNP: rs121913122
rs121913122 		0.925 0.320 1 241504123 stop gained G/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 2002 2015
dbSNP: rs752232718
rs752232718 		0.925 0.320 1 241508652 missense variant T/C snv 4.0E-06
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 7 1998 2016
dbSNP: rs121913120
rs121913120 		0.925 0.320 1 241513680 stop gained G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2002 2015
dbSNP: rs121913122
rs121913122 		0.925 0.320 1 241504123 stop gained G/A snv 4.0E-06
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 5 2002 2015
dbSNP: rs200004220
rs200004220 		0.925 0.320 1 241500572 missense variant A/G snv 7.3E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2006 2011
dbSNP: rs398123163
rs398123163 		0.925 0.320 1 241500534 frameshift variant T/- del
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 5 1998 2011
dbSNP: rs756469140
rs756469140 		0.925 0.320 1 241504064 frameshift variant CATT/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2003 2015
dbSNP: rs121913120
rs121913120 		0.925 0.320 1 241513680 stop gained G/A snv 7.0E-06
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 4 2002 2015
dbSNP: rs398123159
rs398123159 		0.925 0.320 1 241504130 missense variant A/T snv 1.2E-05
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 4 2003 2015
dbSNP: rs398123168
rs398123168 		0.925 0.320 1 241504198 missense variant G/A snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 4 2003 2011
dbSNP: rs752232718
rs752232718 		0.925 0.320 1 241508652 missense variant T/C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1998 2012
dbSNP: rs121913119
rs121913119 		0.925 0.320 1 241504066 missense variant C/G snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.700 1.000 3 1994 2015
dbSNP: rs121913121
rs121913121 		0.851 0.320 1 241513661 missense variant T/G snv
CUI: C1708350
Disease: Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases 0.800 1.000 3 1994 2015
dbSNP: rs1553341942
rs1553341942 		0.925 0.320 1 241517209 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2006 2016
dbSNP: rs398123159
rs398123159 		0.925 0.320 1 241504130 missense variant A/T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2003 2011
dbSNP: rs398123166
rs398123166 		0.925 0.320 1 241508781 stop gained G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2003 2012
dbSNP: rs756469140
rs756469140 		0.925 0.320 1 241504064 frameshift variant CATT/- delins 4.0E-06
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 3 2003 2015
dbSNP: rs797044973
rs797044973 		0.925 0.320 1 241504246 splice acceptor variant C/G;T snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 3 2002 2011
dbSNP: rs863223966
rs863223966 		0.925 0.320 1 241504057 missense variant T/C snv
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 3 2003 2012