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: C0152021
Disease:
Congenital heart disease
0.090 GeneticVariation BEFREE In summary, we found that the MTHFR C677T polymorphism is associated with a significant increased risk in congenital heart disease in the fetal population. 29554656 2018
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.090 GeneticVariation BEFREE A meta-analysis of polymorphism C677T (rs1801133) of the methylene tetrahydrofolate reductase (MTHFR) gene as a potential risk factor for congenital heart disease (CHD) in Chinese paediatric population was studied in view of the previously reported controversial results. 28591039 2017
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.090 GeneticVariation BEFREE Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease. 26990189 2016
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.090 GeneticVariation BEFREE MTHFR C677T and A1298C gene polymorphisms and their relation to homocysteine level in Egyptian children with congenital heart diseases. 23933414 2013
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.090 GeneticVariation BEFREE Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls. 23876493 2013
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.090 GeneticVariation BEFREE Methylenetetrahydrofolate reductase C677T polymorphism and congenital heart disease: a meta-analysis. 21793799 2011
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.090 GeneticVariation BEFREE The aim of this study was to evaluate whether the cytosine-to-thymine mutation at base 677 of the methylenetetrahydrofolate reductase gene (MTHFR C677T), which has been associated with neural tube defects and congenital oral cleft, is also associated with tetralogy of Fallot (TF), a congenital heart disease. 19894660 2009
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.090 GeneticVariation BEFREE Association of the C677T methylenetetrahydrofolate reductase mutation with congenital heart diseases. 16305696 2005
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.090 GeneticVariation BEFREE We did not find sufficient evidence for an association between MTHFR C677T genotype and congenital heart disease in our study group. 16207540 2005
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.020 GeneticVariation BEFREE Two Common MTHFR Gene Polymorphisms (C677T and A1298C) and Fetal Congenital Heart Disease Risk: An Updated Meta-Analysis with Trial Sequential Analysis. 29554656 2018
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.020 GeneticVariation BEFREE MTHFR C677T and A1298C gene polymorphisms and their relation to homocysteine level in Egyptian children with congenital heart diseases. 23933414 2013
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.010 GeneticVariation BEFREE A meta-analysis of polymorphism C677T (rs1801133) of the methylene tetrahydrofolate reductase (MTHFR) gene as a potential risk factor for congenital heart disease (CHD) in Chinese paediatric population was studied in view of the previously reported controversial results. 28591039 2017
dbSNP: rs145641996
rs145641996
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0152021
Disease:
Congenital heart disease
0.010 GeneticVariation BEFREE The association of the MTHFR c.1625A>C genetic variant with the risk of congenital heart diseases in the Chinese. 25494855 2015