MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.040 GeneticVariation BEFREE A common variant in methylenetetrahydrofolate reductase (MTHFR 677C→T) causes mild MTHFR deficiency with lower 5-methyltetrahydrofolate for methylation reactions. 30408316 2019
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.040 GeneticVariation BEFREE Mild MTHFR deficiency (677C > T polymorphism) increases risk for complex traits, including neuropsychiatric disorders. 28069796 2017
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.040 GeneticVariation BEFREE In addition, two polymorphic variants in this gene (C677T and A1298C) have been implicated in a mild form of MTHFR deficiency associated with hyperhomocysteinemia. 27130656 2016
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856058
Disease:
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.040 GeneticVariation BEFREE We suggest that mild MTHFR deficiency protects against malarial infection and that this phenomenon may have led to the high frequency of the 677C>T/c.665C>T variant in human populations. 24616178 2014