rs301807

This variant is located in the RERE gene.

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GWAS Catalog Trait Associations (7)

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 G
OR 0.01
p 3.0e-34
N 2,669,029
Large GWAS
European

diastolic 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 A
OR 0.01
p 8.0e-16
N 928,679
Large GWAS
multi-ancestry
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 0.02
p 1.0e-12
N 485,677
Large GWAS
multi-ancestry

Vitiligo

Jin Y et al. “Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.” Nature Genetics 48(11):1418-1424 (2016)
Allele A
OR 1.21
p 4.0e-15
N 40,258
Large GWAS
European

basophil count, eosinophil count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.02
p 3.0e-11
N 171,771
Large GWAS
European

eosinophil count

Höglund J et al. “Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count.” Frontiers in Immunology 13:862255 (2022)
Allele A
OR 0.02
p 6.0e-11
N 365,954
Large GWAS
European

major depressive disorder

Nagel M et al. “Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.” Nature Genetics 50(7):920-927 (2018)
Allele A
OR 6.41
p 1.0e-10
N 688,809
Meta-analysisLarge GWAS
European

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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