rs138726443

This is a stop gained variant in the FLG gene.

▶

GWAS Catalog Trait Associations (6)

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

atopic eczema

Chen Y et al. “Genome-Wide Integration of Genetic and Genomic Studies of Atopic Dermatitis: Insights into Genetic Architecture and Pathogenesis.” The Journal of Investigative Dermatology 142(11):2958-2967.e8 (2022)
Allele A
OR 0.77
p 4.0e-25
N 837,496
Large GWAS
multi-ancestry

Eczematoid dermatitis

Grosche S et al. “Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.” Nature Communications 12(1):6618 (2021)
Allele A
OR 2.18
p 2.0e-23
N 400,449
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.59
p 3.0e-15
N 394,626
Large GWAS
European

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 A
OR 0.33
p 5.0e-22
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 A
OR 0.12
p 6.0e-17
N 47,745
Large GWAS
European

vitamin D level

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.15
p 6.0e-16
N 339,705
Major Consortium StudyLarge GWAS
multi-ancestry
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 A
OR 0.11
p 9.0e-15
N 443,734
Large GWAS
European
▶

ClinVar annotation

Pathogenic★★★☆
33 submitters17 publications

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

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…