MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Methylenetetrahydrofolate reductase deficiency ×
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: rs1217691063
rs1217691063 		0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders 0.040 1.000 4 2014 2019
dbSNP: rs1801133
rs1801133 		0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444 		0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs754980119
rs754980119 		0.925 0.280 1 11802962 missense variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014