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: 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: rs876660446
rs876660446 		1.000 0.080 1 241502559 missense variant G/A;T snv 4.0E-06
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs12071124
rs12071124 		1.000 0.080 1 241520405 upstream gene variant C/A;T snv 0.71
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1060499630
rs1060499630 		0.882 0.320 1 241513659 stop gained G/A snv
CUI: C0346064
Disease: Cutaneous leiomyoma
Cutaneous leiomyoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121913121
rs121913121 		0.851 0.320 1 241513661 missense variant T/G snv
CUI: C0346064
Disease: Cutaneous leiomyoma
Cutaneous leiomyoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs863224007
rs863224007 		0.882 0.320 1 241502490 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		Neoplasms 0.010 1.000 1 2005 2005
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: 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: 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: 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: rs863223994
rs863223994 		1.000 0.200 1 241497923 frameshift variant -/CCATTTTT 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: 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: rs1553340686
rs1553340686 		1.000 0.200 1 241500490 frameshift variant -/ATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTG 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 4 2003 2011
dbSNP: rs199822819
rs199822819 		0.925 0.240 1 241512001 missense variant G/C;T snv 2.0E-05 2.8E-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 2012
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: rs863224004
rs863224004 		1.000 0.200 1 241504053 missense variant C/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 4 2003 2011
dbSNP: rs1060500900
rs1060500900 		1.000 0.200 1 241519682 frameshift variant -/G delins 2.7E-05; 1.4E-05 2.1E-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 3 2011 2016
dbSNP: rs1060500901
rs1060500901 		1.000 0.200 1 241508601 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 3 2002 2017