rs150597413

This is a stop gained variant in the FLG gene.

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GWAS Catalog Trait Associations (5)

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

proactivator polypeptide-like 1 measurement

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 0.35
p 4.0e-20
N 47,745
Large GWAS
European

corneodesmosin measurement

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 0.15
p 1.0e-19
N 47,745
Large GWAS
European

pyrin domain-containing protein 1 measurement

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 0.26
p 1.0e-12
N 47,745
Large GWAS
European

vitamin D level

Manousaki D et al. “Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.” American Journal of Human Genetics 106(3):327-337 (2020)
Allele T
OR 0.10
p 6.0e-11
N 443,734
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
19 submitters17 publications

Dermatitis, atopic, 2; FLG-related disorder; Ichthyosis vulgaris; See cases

View on ClinVar →

About FLG

The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]

View all FLG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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