rs35742417

This variant is located in the RREB1 gene.

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GWAS Catalog Trait Associations (13)

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

HbA1c measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 3.0e-29
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry
Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)
Allele A
OR 0.01
p 4.0e-9
N 144,060
Large GWAS
multi-ancestry

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 1.0e-26
N 415,403
Large GWAS
multi-ancestry

glucose measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 2.0e-23
N 325,386
Major Consortium StudyLarge GWAS
multi-ancestry

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele A
OR —
β 0.026
p 3.0e-21
N 684,122
Large GWAS
European

blood glucose amount

Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)
Allele A
OR 0.02
p 1.0e-16
N 129,665
Large GWAS
multi-ancestry
Mahajan A et al. “Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.” Plos Genetics 11(1):e1004876 (2015)
Allele A
OR 0.02
p 8.0e-9
N 33,231
Large GWAS
European

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 3.0e-12
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.15
p 8.0e-12
N 1,028,980
Large GWAS
multi-ancestry

cholesterol in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry

cholesteryl ester measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry

free cholesterol in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 5.0e-11
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Benign
1 submitter

RREB1-related disorder

View on ClinVar →

About RREB1

The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

View all RREB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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