rs12951632
This is a intron variant variant in the RETREG3 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
amount of iron in brain
Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)
Allele T
OR 0.14
p 6.0e-80
N 39,533
Major Consortium StudyLarge GWAS
European
protein measurement
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele C
OR 0.19
p 1.0e-12
N 3,506
Large GWAS
European
Parkinson disease
Nalls MA et al. “Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.” The Lancet. Neurology 18(12):1091-1102 (2019)
Allele T
OR 0.06
p 1.0e-9
N 482,730
Meta-analysisLarge GWAS
European
About RETREG3
Predicted to enable endoplasmic reticulum-autophagosome adaptor activity. Involved in endoplasmic reticulum tubular network organization; positive regulation of neuron projection development; and reticulophagy. Located in endoplasmic reticulum tubular network. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]
View all RETREG3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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