rs17367504

This is a regulatory region variant variant in the MTHFR gene.

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GWAS Catalog Trait Associations (9)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

diastolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele A
OR 0.37
p 5.0e-32
N 321,262
Large GWAS
multi-ancestry
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele A
OR 0.53
p 3.0e-18
N 150,134
Large GWAS
multi-ancestry
Kulminski AM et al. “Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.” Aging 10(3):492-514 (2018)
Allele A
OR 0.56
p 3.0e-9
N 33,431
Large GWAS
European

hypertension, Antihypertensive use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.07
p 2.0e-22
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

mean arterial pressure

Liu C et al. “Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.” Nature Genetics 48(10):1162-70 (2016)
Allele G
OR 0.60
p 9.0e-21
N 146,562
Meta-analysisLarge GWAS
multi-ancestry
Wain LV et al. “Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.” Nature Genetics 43(10):1005-11 (2011)
Allele G
OR 0.53
p 2.0e-16
N 74,064
Large GWAS
European

pulse pressure measurement

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele A
OR 0.31
p 4.0e-19
N 321,262
Large GWAS
multi-ancestry

platelet volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.02
p 7.0e-16
N 460,935
Large GWAS
European

birth weight, parental genotype effect measurement

Warrington NM et al. “Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.” Nature Genetics 51(5):804-814 (2019)
Allele G
OR 0.03
p 3.0e-13
N 230,069
Large GWAS
European

preeclampsia

Honigberg MC et al. “Polygenic prediction of preeclampsia and gestational hypertension.” Nature Medicine 29(6):1540-1549 (2023)
Allele A
OR 1.14
p 5.0e-10
N 193,886
Large GWAS
multi-ancestry

systolic blood pressure

Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele G
OR —
β 0.041
p 8.0e-17
N 192,763
Large GWAS
multi-ancestry
Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)
Allele G
OR 0.82
p 1.0e-16
N 150,134
Large GWAS
multi-ancestry
Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele G
OR 0.49
p 2.0e-9
N 99,785
Large GWAS
multi-ancestry
Newton-Cheh C et al. “Genome-wide association study identifies eight loci associated with blood pressure.” Nature Genetics 41(6):666-76 (2009)
Allele G
OR 0.85
p 2.0e-13
N 34,433
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

About MTHFR

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

View all MTHFR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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