Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE In summary, our meta-analysis strongly suggests that the MTHFD1 G1958A polymorphism might be associated with maternal risk for NTDs in Caucasian populations. 24977710

2014

dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE MTHFD1 p.R653Q has been proposed as a risk factor for neural tube defects (NTDs), congenital heart defects (CHDs) and pregnancy losses. 23704330

2013

dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE The ten strongest association signals (p-value range: 0.0003-0.0023) were found in nine genes (MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury)) and included the known NTD risk factor MTHFD1 R653Q (rs2236225). 22856873

2012

dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE The ten strongest association signals (p-value range: 0.0003-0.0023) were found in nine genes (MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury)) and included the known NTD risk factor MTHFD1 R653Q (rs2236225). 22856873

2012

dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE We investigated this SNP as a potential risk factor for NTDs in a large homogenous Irish population and determined that it is not an independent risk factor, but, it does increase both case (chi (2) = 11.06, P = 0.001) and maternal (chi (2) = 6.68, P = 0.01) risk when allele frequencies were analysed in combination with the previously identified disease-associated p.R653Q (c.1958 G > A; dbSNP rs2236225) polymorphism. 19130090

2009

dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE A common variant in MTHFD1, p.Arg653Gln (c.1958G>A), may increase the risk for neural tube defects (NTD). 18767138

2009

dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE A common variant in MTHFD1, p.Arg653Gln (c.1958G>A), may increase the risk for neural tube defects (NTD). 18767138

2009

dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE In summary, our results indicate that heterozygosity and homozygosity for the MTHFD1 1958G > A polymorphism are genetic determinants of NTD risk in the cases examined. 16315005

2006

dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE We have established that the MTHFD1 1958G>A polymorphism has a significant role in influencing a mother's risk of having an NTD-affected pregnancy in the Irish population. 16552426

2006

dbSNP: rs2236225
rs2236225
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation BEFREE One SNP, R653Q, in this gene appears to be associated with NTD risk. 12384833

2002