rs1981997

This is a intron variant variant in the MAPT gene.

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GWAS Catalog Trait Associations (1)

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

interstitial lung disease

Fingerlin TE et al. “Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.” Nature Genetics 45(6):613-20 (2013)
Allele G
OR 1.41
p 9.0e-14
N 5,844
Large GWAS
European
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Research that mentions this SNP (1)

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Genomewide association study for susceptibility genes contributing to familial Parkinson disease
AssociationN=1,724Nathan Pankratz et al.(2009)· Human Genetics

First genome-wide association study (GWAS) of familial Parkinson disease in 857 cases and 867 controls identified association with SNPs in GAK/DGKQ (p=3.4×10⁻⁶, OR=1.69), SNCA (p=5.5×10⁻⁵, OR=1.35), and MAPT (p=2.0×10⁻⁵, OR=0.56). Meta-analysis with Fung et al. strengthened evidence for GAK/DGKQ (p=2.5×10⁻⁷) and MAPT regions, confirming previously implicated genes and nominating new susceptibility loci for PD.

Traits studied:Parkinson diseasefamilial Parkinson disease
PubMedDOIMetascience 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]

View all MAPT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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