rs1167796

This is a intron variant variant in the HIP1 gene.

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GWAS Catalog Trait Associations (2)

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

educational attainment

Okbay A et al. “Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.” Nature Genetics 54(4):437-449 (2022)

Allele A

OR 0.01

p 7.0e-30

N 3,037,499

Large GWAS

European

systemic lupus erythematosus

Han JW et al. “Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.” Nature Genetics 41(11):1234-7 (2009)

Allele G

OR 1.20

p 2.0e-8

N 2,252

Large GWAS

East Asian

About HIP1

The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

View all HIP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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