rs144080386

This is a variant in the PADI3 gene that changes a alanine to an valine.

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GWAS Catalog Trait Associations (3)

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

level of fatty acid-binding protein 9 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.25
p 2.0e-25
N 47,745
Large GWAS
European

hair color

Morgan MD et al. “Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.” Nature Communications 9(1):5271 (2018)
Allele T
OR 1.30
p 5.0e-12
N 323,317
Major Consortium StudyLarge GWAS
European

strand of hair color

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)
Allele T
OR 0.24
p 1.0e-10
N 455,164
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
13 submitters6 publications

PADI3-related disorder; Uncombable hair syndrome 1 (UHS1)

View on ClinVar →

About PADI3

This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

View all PADI3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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