rs301806

This is a upstream gene variant variant in the RERE gene.

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GWAS Catalog Trait Associations (9)

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

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele T
OR 0.01
p 5.0e-33
N 3,382,012
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

allergic disease

Ferreira MA et al. “Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.” Nature Genetics 49(12):1752-1757 (2017)
Allele T
OR 1.05
p 2.0e-20
N 360,838
Large GWAS
European

Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR 1.04
p 1.0e-12
N 323,807
Major Consortium StudyLarge GWAS
European

wellbeing measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele T
OR 0.01
p 2.0e-12
N 2,083,151
Large GWAS
European

depressive symptom measurement

Turley P et al. “Multi-trait analysis of genome-wide association summary statistics using MTAG.” Nature Genetics 50(2):229-237 (2018)
Allele C
OR 0.01
p 1.0e-9
N 354,862
Large GWAS
European

irritable bowel syndrome

Alemany S et al. “Genome-wide multi-trait analysis of irritable bowel syndrome and related mental conditions identifies 38 new independent variants.” Journal of Translational Medicine 21(1):272 (2023)
Allele T
OR 0.01
p 2.0e-9
N 887,490
Large GWAS
European

major depressive disorder

Hyde CL et al. “Identification of 15 genetic loci associated with risk of major depression in individuals of European descent.” Nature Genetics 48(9):1031-6 (2016)
Allele T
OR 0.03
p 2.0e-9
N 326,113
Large GWAS
European

systemic lupus erythematosus

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele C
OR 0.04
p 8.0e-9
N 718,496
Large GWAS
multi-ancestry

chronotype measurement

Jansen PR et al. “Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.” Nature Genetics 51(3):394-403 (2019)
Allele C
OR 0.01
p 5.0e-8
N 385,949
Large GWAS
European
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Research that mentions this SNP (1)

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Thyroid‐associated genetic polymorphisms in relation to breast cancer risk in the Malmö Diet and Cancer Study
AssociationN=4,058Jasmine Brandt et al.(2018)· International Journal of Cancer

This prospective nested case-control study examined 17 single nucleotide polymorphisms related to free thyroxine (fT4) and thyroid peroxidase antibody (TPO-Ab) levels in 865 breast cancer cases and 3,193 controls from the Malmö Diet and Cancer Study. The main findings identified fT4-related SNPs rs2235544 (DIO1 gene, OR for breast cancer risk in low fT4 women) and rs6485050, as well as TPO-Ab-related SNPs rs11675434, rs3094228, rs1033662, rs301806, and rs2071403 as potentially associated with breast cancer risk. The most promising association was rs2235544 (DIO1), where the C allele was associated with lower fT4 levels and increased breast cancer risk, particularly in women with low fT4 levels, suggesting a potential causal relationship.

Traits studied:Breast cancer riskFree thyroxine (fT4) levelsThyroid peroxidase antibodies (TPO-Ab)
PubMedDOIMetascience Observatory

About RERE

This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all RERE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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