MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Congenital defects ×
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: C0220810
Disease:
Congenital defects 		0.050 GeneticVariation BEFREE CONCLUSION: Although MTHFR C677T and A1298C are significantly associated with some types of congenital defects and adverse pregnancy outcomes, the impact of these polymorphisms is moderate. 30474229 2019
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0220810
Disease:
Congenital defects 		0.050 GeneticVariation BEFREE The MTHFR C677T polymorphism was significantly associated with 42 clinical disorders (p < 0.05), mostly relating to the diseases of circulatory system, birth defects and cancers. 27888505 2017
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0220810
Disease:
Congenital defects 		0.050 GeneticVariation BEFREE C677T polymorphism of MTHFR gene was reported as risk factor for congenital defects, metabolic and neuropsychiatric disorders. 27025471 2016
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0220810
Disease:
Congenital defects 		0.050 GeneticVariation BEFREE The MTHFR 677C > T polymorphism in conjunction with reduced folate- and/or cobalamin status may increase the risk of complex birth defects. 18435414 2008
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0220810
Disease:
Congenital defects 		0.050 GeneticVariation BEFREE We studied whether two polymorphisms in the MTHFR gene (677C-->T and 1298A-->C) are associated with pregnancy complications, adverse outcomes, and birth defects. 15210385 2004
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0220810
Disease:
Congenital defects 		0.020 GeneticVariation BEFREE CONCLUSION: Although MTHFR C677T and A1298C are significantly associated with some types of congenital defects and adverse pregnancy outcomes, the impact of these polymorphisms is moderate. 30474229 2019
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0220810
Disease:
Congenital defects 		0.020 GeneticVariation BEFREE We studied whether two polymorphisms in the MTHFR gene (677C-->T and 1298A-->C) are associated with pregnancy complications, adverse outcomes, and birth defects. 15210385 2004