Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTHFR 677C-->T, MTRR 66A-->G and the relationship between these genotypes and the risk of Down syndrome was analyzed. 18257130 2008
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE This meta-analysis indicates that maternal MTRR 66A>G polymorphism is associated with an increased risk of having a DS child. 23094987 2013
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE With the purpose of evaluating this relationship, we compared the frequencies of 677C>T and 1298A>C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) and 66A>G in the methionine synthase reductase gene (MTRR) between 103 young mothers of Down syndrome (DS) individuals and 108 control mothers, whose offspring was karyotypically normal, correlating it with an estimative of folate and - related micronutrients levels intake. 19096127 2008
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE Overall, we found that maternal MTHFR C677T polymorphism (OR(TvsC) =1.20; 95% CI = 1.13-1.28) and MTRR A66G polymorphism (OR(GvsA) = 1.21; 95% CI = 0.98-1.49) were risk factors for producing offspring with NTD but maternal MTHFR A1298C polymorphism (OR(CvsA) = 0.91; 95% CI = 0.78-1.07) was not associated with NTD risk. 25005003 2015
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE To investigate the role of four parental folate pathway single nucleotide polymorphisms (SNPs) i.e., methylene tetrahydrofolate reductase (MTHFR) 677C>T, MTHFR 1298A>C, methionine synthase reductase (MTRR) 66A>G and glutamate carboxypeptidase (GCP) II 1561C>T on susceptibility to neural tube defects (NTDs) in 50 couples with NTD offspring and 80 couples with normal pregnancy outcome. 20047525 2010
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE The methionine-synthase-reductase A66G, the methionine-synthase A2756G and the cystathionine-beta-synthase 844ins68 polymorphisms were not associated with increased risk of Down syndrome. 16845273 2006
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0010068
Disease:
Coronary heart disease
0.100 GeneticVariation BEFREE These data indicate that maternal MTRR 66A>G polymorphism is not a risk factor for CHD. 17087642 2006
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated. 12923861 2003
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE There was evidence for an association between the MTRR c.66A>G</span> (rs1801394) polymorphism and maternal risk for DS. 25544792 2014
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE In conclusion, MTRR A66G is significantly more common in mothers of children with Down syndrome but does not appear to increase the risk for Down syndrome by changing homocysteine metabolism. 11807890 2002
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. 17934692 2007
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0010068
Disease:
Coronary heart disease
0.100 GeneticVariation BEFREE This meta-analysis suggests that MTR A2756G polymorphism, but not MTRR A66G and MTHFR A1298C, is associated with risk of CHD for Europeans. 21780915 2012
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE The present meta-analysis indicated that MTRR A66G polymorphism, but not MTR A2756G, is significantly associated with maternal risk for NTDs in Caucasians. 23266814 2013
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE This study aimed to analyze a dataset of genetic and cytogenetic data in an Italian group of MDS and mothers of healthy children (control mothers) to assess the predictive capacity of artificial neural networks assembled in TWIST system in distinguish consistently these two different conditions and to identify the variables expressing the maximal amount of relevant information to the condition of being mother of a DS child.The dataset consisted of the following variables: the frequency of chromosome damage in peripheral lymphocytes (BNMN frequency) and the genotype for 7 common polymorphisms in folate metabolic genes (MTHFR 677C>T and 1298A>C, MTRR 66A>G, MTR 2756A>G, RFC1 80G>A and TYMS 28bp repeats and 1494 6bp deletion). 20868477 2010
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE The MTHFR 677C-->T polymorphism was shown to represent a risk factor in NTD cases (CC v CT+TT odds ratio (OR) 2.03 [95% confidence interval (CI) 1.09, 3.79] p = 0.025) and the MTRR 66A-->G</span> polymorphism was shown to exert a protective effect in NTD cases (AA v AG+GG OR 0.31 [95% CI 0.10, 0.94] p = 0.04). 15060097 2004
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE There was evidence for an association between the MTRR c.66A>G</span> (rs1801394) polymorphism and maternal risk for DS. 25544792 2014
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. 24068460 2013
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents. 29130768 2017
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE This study aimed to investigate the role of maternal polymorphisms, as well as their risk genotypes combinations of MTR A2756G, MTRR A66G, CBS 844ins68, and RFC A80G, involved in folate/homocysteine metabolism, as possible risk factors for Down syndrome (DS) in Southern Brazil. 21045269 2010
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE Overall, present data suggest that the MTRR c.66A>G polymorphism represents a risk factor for the birth of a child with DS among white Caucasian women. 24965145 2014
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE Recent studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR, C677T) and methionine synthase gene (MTRR, A66G) in mothers with DS child. 12626825 2003
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.100 GeneticVariation BEFREE Overall, present data suggest that the MTRR c.66A>G polymorphism represents a risk factor for the birth of a child with DS among white Caucasian women. 24965145 2014
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0010068
Disease:
Coronary heart disease
0.100 GeneticVariation BEFREE Also, MTRR A66G and C524T polymorphisms were associated with a higher CHD risk in the homozygote comparison of wild and mutant genotypes and also in heterozygote and mutant comparison. 28778621 2017
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE This study was aimed at analyzing the effect of mutations in three non-synonymous SNP genes (677C > T and 1298A > C of the methylenetetrahydrofolate reductase (MTHFR) gene, and 66A > G in the MTRR gene) on total plasmatic homocysteine (Hcy), in 91 mothers of Down syndrome (DS) infants and 90 control mothers. 16575899 2006
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. 24068460 2013