Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.100 GeneticVariation BEFREE One SNP, R653Q, in this gene appears to be associated with NTD risk. 12384833 2002
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
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