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: 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: 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: rs779707997
rs779707997 		0.925 0.320 1 241511968 missense variant T/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 0.800 1.000 2 2013 2015
dbSNP: rs1553341046
rs1553341046 		1.000 0.200 1 241504215 missense variant A/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 0.800 1.000 1 1998 1998
dbSNP: rs367543046
rs367543046 		1.000 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 16 1997 2015
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: 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: rs587781682
rs587781682 		1.000 0.200 1 241508644 missense variant 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 10 1997 2011
dbSNP: rs587781682
rs587781682 		1.000 0.200 1 241508644 missense variant 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 10 1990 2012
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: rs199822819
rs199822819 		0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2003 2015
dbSNP: rs200796606
rs200796606 		1.000 0.200 1 241502552 missense variant T/G snv 6.4E-05 4.9E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2000 2017
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: rs367543046
rs367543046 		1.000 0.200 1 241497927 inframe insertion -/TTT delins 1.0E-03; 8.0E-06 1.0E-03
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 1997 2013
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: rs200796606
rs200796606 		1.000 0.200 1 241502552 missense variant T/G snv 6.4E-05 4.9E-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 6 2000 2017
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: rs1553340708
rs1553340708 		1.000 0.200 1 241500575 frameshift variant -/T delins
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: rs1558396285
rs1558396285 		1.000 0.200 1 241500435 splice donor variant A/G 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 5 1998 2011
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: rs587782216
rs587782216 		1.000 0.200 1 241504150 missense variant T/C;G 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 5 2008 2012
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