rs7805218

This is a intron variant variant in the ITGB8 gene.

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GWAS Catalog Trait Associations (2)

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

type 1 diabetes mellitus

Chiou J et al. “Interpreting type 1 diabetes risk with genetics and single-cell epigenomics.” Nature 594(7863):398-402 (2021)
Allele A
OR 0.10
p 9.0e-9
N 520,580
Large GWAS
European

primary biliary cirrhosis

Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele A
OR 0.13
p 4.0e-8
N 24,510
Meta-analysisLarge GWAS
European

About ITGB8

This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

View all ITGB8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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