MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 192; N. variants: 93
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17037388
rs17037388
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17367504
rs17367504
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0005612
Disease:
Birth Weight 		G 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs45553335
rs45553335
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs13306556
rs13306556
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs13306556
rs13306556
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1305849
Disease:
Diastolic blood pressure measurement 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs13306561
rs13306561
Entrez Id: 1185;4524
Gene Symbol: CLCN6;MTHFR
CLCN6;MTHFR
CUI: C0001948
Disease:
Alcohol consumption 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs13306561
rs13306561
Entrez Id: 1185;4524
Gene Symbol: CLCN6;MTHFR
CLCN6;MTHFR
CUI: C0427418
Disease:
Folic acid measurement, RBC 		0.700 GeneticVariation GWASCAT The 677C→T variant of MTHFR is the major genetic modifier of biomarkers of folate status in a young, healthy Irish population. 30339177 2018
dbSNP: rs17037390
rs17037390
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs17367504
rs17367504
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0428883
Disease:
Diastolic blood pressure 		G 0.700 GeneticVariation GWASCAT Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes. 29615537 2018
dbSNP: rs17367504
rs17367504
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0428883
Disease:
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
dbSNP: rs17367504
rs17367504
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0523631
Disease:
Folic acid measurement 		0.700 GeneticVariation GWASCAT The 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T (rs1801133) variant was the major genetic modifier of all 3 folate-related biomarkers in this Irish population and reached genome-wide significance for red blood cell folate (P = 1.37 × 10-17), serum folate (P = 2.82 × 10-11), and plasma total homocysteine (P = 1.26 × 10-19) concentrations. 30339177 2018
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0523631
Disease:
Folic acid measurement 		0.700 GeneticVariation GWASCAT We validated that rs1801133 in MTHFR was significantly involved in serum folate (P = 4.21 × 10<sup>-19</sup>). 29953918 2018
dbSNP: rs3753584
rs3753584
Entrez Id: 1185;4524
Gene Symbol: CLCN6;MTHFR
CLCN6;MTHFR
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs3753584
rs3753584
Entrez Id: 1185;4524
Gene Symbol: CLCN6;MTHFR
CLCN6;MTHFR
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs3753584
rs3753584
Entrez Id: 1185;4524
Gene Symbol: CLCN6;MTHFR
CLCN6;MTHFR
CUI: C1305849
Disease:
Diastolic blood pressure measurement 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs3753584
rs3753584
Entrez Id: 1185;4524
Gene Symbol: CLCN6;MTHFR
CLCN6;MTHFR
CUI: C0428886
Disease:
Mean blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs3753584
rs3753584
Entrez Id: 1185;4524
Gene Symbol: CLCN6;MTHFR
CLCN6;MTHFR
CUI: C1306620
Disease:
Systolic blood pressure measurement 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs6541006
rs6541006
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
dbSNP: rs6541006
rs6541006
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0428883
Disease:
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
dbSNP: rs17367504
rs17367504
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs17367504
rs17367504
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0871470
Disease:
Systolic Pressure 		G 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
dbSNP: rs17367504
rs17367504
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0428883
Disease:
Diastolic blood pressure 		G 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017