rs9468

This is a 3 prime utr variant variant in the MAPT gene.

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GWAS Catalog Trait Associations (2)

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

progressive supranuclear palsy

Farrell K et al. “Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.” Nature Communications 15(1):7880 (2024)

Allele C

OR 4.81

p 2.0e-110

N 8,363

Large GWAS

European

venous thromboembolism

Thibord F et al. “Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.” Circulation 146(16):1225-1242 (2022)

Allele T

OR 0.05

p 1.0e-10

N 1,066,917

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

MAPT-Related Spectrum Disorders

View on ClinVar →

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Research that mentions this SNP (1)

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Replication of MAPT and SNCA, but not PARK16‐18, as susceptibility genes for Parkinson's disease

AssociationN=2,606Ignacio F. Mata et al.(2011)· Movement Disorders

This replication study of 1,445 Parkinson's disease patients and 1,161 controls from Northern Spain confirms MAPT (rs1800547, p=3.1×10⁻⁴, OR=0.79) and SNCA (rs356219, p=5.5×10⁻⁴, OR=1.23) as PD susceptibility genes, but fails to replicate PARK16, PARK17, and PARK18 loci (p values 0.09-0.88). The findings suggest that PARK16-18 may harbor population-specific effects or require larger sample sizes for detection in European-derived populations.

Traits studied:Parkinson's disease

PubMed DOI Metascience Observatory

About MAPT

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]