Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141210410
rs141210410
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs141210410
rs141210410
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1866558
Disease:
Neural tube defect, folate-sensitive 		0.700 GeneticVariation UNIPROT Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. 9611072 1998
dbSNP: rs34181110
rs34181110
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1866558
Disease:
Neural tube defect, folate-sensitive 		0.700 GeneticVariation UNIPROT Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. 9611072 1998
dbSNP: rs34181110
rs34181110
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0080178
Disease:
Spina Bifida 		0.010 GeneticVariation BEFREE The first one (R293H) was detected in a patient with familial spina bifida and not in 300 control individuals. 9611072 1998
dbSNP: rs34181110
rs34181110
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE The first one (R293H) was detected in a patient with familial spina bifida and not in 300 control individuals. 9611072 1998
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1866558
Disease:
Neural tube defect, folate-sensitive 		0.700 GeneticVariation UNIPROT A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. 12384833 2002
dbSNP: rs34181110
rs34181110
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1866558
Disease:
Neural tube defect, folate-sensitive 		0.700 GeneticVariation UNIPROT A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. 12384833 2002
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: C0009402
Disease:
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. 15122597 2004
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0010068
Disease:
Coronary heart disease 		0.040 GeneticVariation BEFREE To investigate the relationship between G1958A gene polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD) and occurrence of congenital heart disease (CHD) in North China. 15861780 2005
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0149931
Disease:
Migraine Disorders 		0.020 GeneticVariation BEFREE Thymidylate synthase promoter tandem repeat and MTHFD1 R653Q polymorphisms modulate the risk for migraine conferred by the MTHFR T677 allele. 15953655 2005
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0018816
Disease:
Heart Septal Defects 		0.010 GeneticVariation BEFREE MTHFD G1958A mutation in parents (particularly in mother) can decrease the risk of arterial septal defect in offspring. 15861780 2005
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0152021
Disease:
Congenital heart disease 		0.010 GeneticVariation BEFREE To investigate the relationship between G1958A gene polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD) and occurrence of congenital heart disease (CHD) in North China. 15861780 2005
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1866558
Disease:
Neural tube defect, folate-sensitive 		0.700 GeneticVariation UNIPROT Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. 16552426 2006
dbSNP: rs34181110
rs34181110
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C1866558
Disease:
Neural tube defect, folate-sensitive 		0.700 GeneticVariation UNIPROT Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects 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 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 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: C0036341
Disease:
Schizophrenia 		0.020 GeneticVariation BEFREE MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia. 17417062 2007
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0005586
Disease:
Bipolar Disorder 		0.020 GeneticVariation BEFREE MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia. 17417062 2007
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0002395
Disease:
Alzheimer's Disease 		0.020 GeneticVariation BEFREE In AD there were significant differences of the levels of only Cys (GG, MTHFR, G1793A) and Met/Hcy (AA, MTHFD1, G1958A) whereas in PD there were more significant differences of the levels of thiols: Hcy [MTHFR: CT (C677T) and GG (G1793A); MTR, AG (A2756G)], Met [MTR, AA (A2756G)], Cys [MTR, AG (A2756G)], and Met/Hcy [MTHFR: CC, CT (C677T) and AA (A1298C), and GG (G1793A); MTHFD1 AA(G1958A); MTR AA(A2756G)]. 17691219 2007
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE In AD there were significant differences of the levels of only Cys (GG, MTHFR, G1793A) and Met/Hcy (AA, MTHFD1, G1958A) whereas in PD there were more significant differences of the levels of thiols: Hcy [MTHFR: CT (C677T) and GG (G1793A); MTR, AG (A2756G)], Met [MTR, AA (A2756G)], Cys [MTR, AG (A2756G)], and Met/Hcy [MTHFR: CC, CT (C677T) and AA (A1298C), and GG (G1793A); MTHFD1 AA(G1958A); MTR AA(A2756G)]. 17691219 2007
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0810364
Disease:
Cleft Lip with or without Cleft Palate 		0.010 GeneticVariation BEFREE Associations were found for both CPO and CLP and MTHFD1 1958 G-->A in cases and case mothers. 18661527 2008