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 In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. 15889417 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0010068
Disease:
Coronary heart disease
0.100 GeneticVariation BEFREE In conclusion, MTRR A66G and C524T polymorphisms are associated with increased risk of CHDs. 22057956 2011
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down 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: C4521042
Disease:
Complete Trisomy 21 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: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. 15889417 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE We detected MTR A2756G and MTRR A66G polymorphisms using PCR-RFLP analysis in a group of NTD infants, their mothers and normal controls. 12649067 2003
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down 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: C4521042
Disease:
Complete Trisomy 21 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: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE In the present report, we asked whether variation at MTHFR (677C-->T) or MTRR (66A-->G) might be associated with human trisomies other than trisomy 21. 11443546 2001
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0010068
Disease:
Coronary heart disease
0.100 GeneticVariation BEFREE Evidence is mounting for the association between MTRR A66G (rs1801394)/MTR A2756G (rs1805087) and the CHD risk, but results are controversial. 24595101 2014
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE Meta-analyses were conducted to set the results of the case-control study in the context of eligible literature on the relation between the MTRR 66A>G variant and NTD risk. 17024475 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 MTHFR 677 C --> T and MTRR 66 A --> G polymorphisms are associated with a greater risk of having a child with DS in North America, Ireland and The Netherlands. 14656028 2003
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-analyses indicate that MTR A2756G and MTRR A66G polymorphism are not associated with NTD risks in Caucasian children. 23425389 2013
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0010068
Disease:
Coronary heart disease
0.100 GeneticVariation BEFREE Our overall analyses suggested that <i>MTRR</i> rs1801394, <i>MTRR</i> rs1532268, <i>MTHFR</i> rs1801131 and <i>MTHFR</i> rs1801133 polymorphisms were all significantly associated with the risk of CHD in certain genetic models. 30333252 2018
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down Syndrome
0.100 GeneticVariation BEFREE MTHFR 677 C --> T and MTRR 66 A --> G polymorphisms are associated with a greater risk of having a child with DS in North America, Ireland and The Netherlands. 14656028 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 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 The frequencies of the MTHFR 677C-->T and MTRR 66A-->G mutations were evaluated in DNA samples from 157 mothers of children with Down syndrome and 144 control mothers. 10930360 2000
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 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 Our results suggest that rs2236225 of MTHFD1 gene, rs1801133 of MTHFR gene and rs1801394 of MTRR gene were associated with NTDs in Han population of Northern China. 29392422 2018
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0013080
Disease:
Down 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: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE This polymorphorism, 66A-->G (I22M), has an allele frequency of 0.51 and increases NTD risk when cobalamin status is low or when the MTHFR mutant genotype is present. 10444342 1999
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0010068
Disease:
Coronary heart disease
0.100 GeneticVariation BEFREE The results showed that MTRR A66G polymorphism was associated with a higher CHD risk in the allele comparison (G vs A: OR 1.163; 95 % CI 1.016-1.330; P heterogeneity = 0.004), the homozygote comparison (GG vs AA: OR 1.332; 95 % CI 1.020-1.740; P heterogeneity = 0.035), and the dominant model (GG/AG vs AA: OR 1.218; 95 % CI 1.001-1.482; P heterogeneity = 0.001). 24913415 2014
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE However, we found no significant effects of MTHFR A1298C, MTR A2756G, MTRR A66G in risk of NTDs in dominant, recessive or in allelic models. 23593147 2013
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE No association was found between NTD</span>s and I22M </span>in mothers (p = 0.16, OR1.14 [0.95-1.38], n = 447) or cases (p = 0.13, OR1.15 [0.96-1.38], n = 470) compared to controls (n = 476). 15979034 2005
dbSNP: rs1801394
rs1801394
Entrez Id: 4552;79072
Gene Symbol: MTRR;FASTKD3
MTRR;FASTKD3
CUI: C4521042
Disease:
Complete Trisomy 21 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