rs425827

This variant is located in the KRT6B gene.

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GWAS Catalog Trait Associations (1)

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

diabetic nephropathy

Pan Y et al. “Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease.” Human Molecular Genetics 32(6):1048-1060 (2023)
Allele A
OR 5.31
p 3.0e-9
N 1,956
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not provided; KRT6B-related disorder

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About KRT6B

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

View all KRT6B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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