Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8006686
rs8006686
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0017601
Disease:
Glaucoma
0.010 GeneticVariation BEFREE One SNP (rs8006686) in MTHFD1 showed a nominally significant association with PXFG (p=0.015, OR=2.23). 19112534 2008
dbSNP: rs8006686
rs8006686
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0206368
Disease:
Exfoliation Syndrome
0.010 GeneticVariation BEFREE Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients. 28299500 2018
dbSNP: rs8003379
rs8003379
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). 23893618 2013
dbSNP: rs8003379
rs8003379
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0162871
Disease:
Aortic Aneurysm, Abdominal
0.010 GeneticVariation BEFREE At the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidaemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (odds ratio (OR) 0.41, 95% confidence interval (CI) 0.26 to 0.65) and rs326118 MTRR (OR 0.47, 95% CI 0.29 to 0.77) polymorphisms resulted in independent susceptibility factor for AAA. 18635682 2008
dbSNP: rs8003379
rs8003379
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE At the multiple logistic regression analysis adjusted for traditional cardiovascular risk factors (sex, age, hypertension, smoking habit, dyslipidaemia, diabetes) and chronic obstructive pulmonary disease (COPD), rs8003379 MTHFD1 (odds ratio (OR) 0.41, 95% confidence interval (CI) 0.26 to 0.65) and rs326118 MTRR (OR 0.47, 95% CI 0.29 to 0.77) polymorphisms resulted in independent susceptibility factor for AAA. 18635682 2008
dbSNP: rs760889414
rs760889414
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
T 0.700 CausalMutation CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
dbSNP: rs6573559
rs6573559
Entrez Id: 4522;7597
Gene Symbol: MTHFD1;ZBTB25
MTHFD1;ZBTB25
CUI: C0027794
Disease:
Neural Tube Defects
0.010 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: rs56811449
rs56811449
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE The polymorphism of SNP loci rs1956545 and rs56811449 as well as a haplotype in MTHFD1 gene could serve as an indicator for the occurrence of NTDs in Chinese population and some specific genotypes of the loci may have lower risk of developing NTDs. 26343515 2015
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: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
T 0.800 GeneticVariation CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
dbSNP: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 GeneticVariation UNIPROT Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
dbSNP: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 GeneticVariation UNIPROT Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. 21813566 2011
dbSNP: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
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: 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 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: 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: rs2281603
rs2281603
Entrez Id: 4522;7597
Gene Symbol: MTHFD1;ZBTB25
MTHFD1;ZBTB25
CUI: C0200635
Disease:
Lymphocyte Count measurement
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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: 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: 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: 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