rs7034179

This is a regulatory region variant variant in the TJP2 gene.

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GWAS Catalog Trait Associations (1)

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

migraine disorder

Hautakangas H et al. “Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.” Nature Genetics 54(2):152-160 (2022)

Allele T

OR 1.04

p 2.0e-16

N 873,341

Large GWAS

European

About TJP2

This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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