Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers. 29222906

2019

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. 31238314

2019

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Here, we report on 3 men with hyperhomocysteinemia and the MTHFR C677T homozygous TT genotype that have reproductive histories of fetal NTDs. 30633186

2019

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229

2019

dbSNP: rs1801394
rs1801394
0.100 GeneticVariation BEFREE MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. 31238314

2019

dbSNP: rs2236225
rs2236225
0.100 GeneticVariation BEFREE For MTHFD1 rs2236225 polymorphism, mothers having GA genotype and A allele exhibited an increased risk of NTDs in the offspring (OR = 2.600, 95%CI: 1.227-5.529; OR = 1.847, 95%CI: 1.047-3.259). 30867013

2019

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE MTHFR C677T, but not A1298C, was associated with neural tube defects (OR, 1.24; 95% CI, 1.08-1.42) and Down syndrome (OR, 1.65; 95% CI, 1.39-1.95). 30474229

2019

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. 31238314

2019

dbSNP: rs1801394
rs1801394
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: rs2236225
rs2236225
0.100 GeneticVariation BEFREE For rs2236225 within MTHFD1, children with allele A or genotype AA had a high NTDs risk (OR=1.500, 95%CI=1.061~2.120; OR=2.862, 95%CI=1.022~8.015, respectively). 29392422

2018

dbSNP: rs2236225
rs2236225
0.100 GeneticVariation BEFREE Our research provides the first evidence supporting a paternal, rather than a maternal, transmission bias of MTHFD1 G1958A variant for NTD susceptibility in the offspring. 26394717

2016

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE Thus, the A1298C polymorphism cannot be regarded as a major risk factor for NTDs. 27323133

2016

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism is a risk factor for neural tube defects. 25788000

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE We found no association between any of the fathers' genotypes and NTDs, whereas a significant correlation between MTHFR C677T polymorphism and NTD risk was found in NTD patients and in their mother. 25808073

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Our study revealed that the SNPs of 677C > T and 1298A > C in MTHFR were associated with NTD-affected pregnancy, in which 677C > T was a risk factor and in contrast 1298A > C was protective factor against NTD. 25855017

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs. 24990354

2015

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE However, in stratified analysis by geographical regions, we found that the maternal C677T polymorphism was significantly associated with the risk of NTD in Asian (OR(TvsC) = 1.43; 95% CI: 1.05-1.94), European (OR(TvsC) = 1.13; 95% CI: 1.04-1.24) and American (OR(TvsC) = 1.26; 95% CI: 1.13-1.41) populations. 25005003

2015

dbSNP: rs1801394
rs1801394
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
0.100 GeneticVariation BEFREE The further meta-analysis enhance that MTRR 66A>G was connected with the susceptibility of NTDs widely. 26334892

2015

dbSNP: rs2236225
rs2236225
0.100 GeneticVariation BEFREE The haplotype GGGG, which consists of 4 SNPs (rs2236225, rs2236224, rs1256146, and rs6573559), is also associated with risk of NTDs (P value=0.0438, OR=0.7180, 95% CI=0.5214-0.9888). 26343515

2015

dbSNP: rs2236225
rs2236225
0.100 GeneticVariation BEFREE However, there was no significant association between the MTHFD1 G1958A polymorphism in NTD patients and the risk of NTD. 25502174

2015

dbSNP: rs2236225
rs2236225
0.100 GeneticVariation BEFREE Our analysis implicated that MTHFD1 1958G>A was significantly associated with the susceptibility of NTD in a Chinese population. 25524527

2015

dbSNP: rs397507444
rs397507444
0.100 GeneticVariation BEFREE However, the 1298 A > C polymorphism was shown to lower the risk of NTD-affected pregnancy. 25855017

2015

dbSNP: rs397507444
rs397507444
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: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE C677T mutation in methylenetetrahydrofolate reductase gene and neural tube defects: should Japanese women undergo gene screening before pregnancy? 24588777

2014