rs301799

This variant is located in the RERE gene.

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GWAS Catalog Trait Associations (4)

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

major depressive disorder

Howard DM et al. “Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.” Nature Neuroscience 22(3):343-352 (2019)

Allele C

OR 1.03

p 4.0e-31

N 807,553

Meta-analysisLarge GWAS

European

systolic blood pressure

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele T

OR 0.01

p 1.0e-14

N 928,679

Large GWAS

multi-ancestry

physical activity measurement

Qi G et al. “Genome-wide association studies of 27 accelerometry-derived physical activity measurements identified novel loci and genetic mechanisms.” Genetic Epidemiology 46(2):122-138 (2022)

Allele C

OR —

β 0.027

p 2.0e-9

N 88,411

Large GWAS

European

eosinophil count

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 C

OR 0.02

p 4.0e-11

N 485,659

Major Consortium StudyLarge GWAS

multi-ancestry

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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)

PubMed DOI Metascience 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]

rs301799

GWAS Catalog Trait Associations (4)

major depressive disorder

systolic blood pressure

physical activity measurement

eosinophil count

Research that mentions this SNP (1)

About RERE

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