rs61816761

This is a stop gained variant in the FLG gene.

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GWAS Catalog Trait Associations (32)

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

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 0.19
p 5.0e-154
N 47,745
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 0.42
p 4.0e-137
N 47,745
Large GWAS
European

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 2.62
p 4.0e-118
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 0.68
p 4.0e-80
N 394,626
Large GWAS
European

allergic disease, age at onset

Ferreira MAR et al. “Age-of-onset information helps identify 76 genetic variants associated with allergic disease.” Plos Genetics 16(6):e1008725 (2020)
Allele A
OR 0.27
p 3.0e-82
N 117,130
Large GWAS
European

allergic disease

Ferreira MAR et al. “Age-of-onset information helps identify 76 genetic variants associated with allergic disease.” Plos Genetics 16(6):e1008725 (2020)
Allele A
OR 0.27
p 5.0e-82
N 477,968
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.77
p 3.0e-12
N 515,368
Large GWAS
multi-ancestry
Ferreira MA et al. “Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.” Nature Genetics 49(12):1752-1757 (2017)
Allele A
OR 1.22
p 7.0e-21
N 360,838
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 A
OR 0.30
p 4.0e-77
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 A
OR 0.13
p 9.0e-74
N 443,734
Large GWAS
European
Revez JA et al. “Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.” Nature Communications 11(1):1647 (2020)
Allele A
OR 0.12
p 3.0e-53
N 417,580
Large GWAS
European

childhood onset asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele A
OR 1.97
p 2.0e-65
N 327,670
Large GWAS
European

kallikrein-8 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 0.26
p 3.0e-48
N 47,745
Large GWAS
European

level of lymphocyte antigen 6D 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 A
OR 0.24
p 2.0e-47
N 47,745
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
43 submitters28 publications

Atopic eczema; Dermatitis, atopic, 2; Dermatitis, atopic, 2, susceptibility to; Eczematoid dermatitis; FLG-related disorder; Ichthyosis vulgaris; Inborn genetic diseases

View on ClinVar →
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Research that mentions this SNP (2)

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Disease variants in genomes of 44 centenarians
Case reportN=44Yun Freudenberg‐Hua et al.(2014)· Molecular Genetics &amp; Genomic Medicine

Whole genome sequencing of 44 Ashkenazi Jewish centenarians identified 216 coding variants annotated as pathogenic or likely pathogenic in ClinVar. The study found 130 rare variants (MAF <5%) reported to cause degenerative, neoplastic, and cardiac diseases with various inheritance patterns. Notably, several carriers had no clinical manifestations despite carrying variants linked to serious diseases (e.g., an APOE ε4 homozygote without Alzheimer's disease, a UBQLN2 P525S carrier without ALS). These findings suggest incomplete penetrance and reduced clinical significance for many reported disease mutations.

Traits studied:Aging and longevityAlzheimer's diseaseAmyotrophic lateral sclerosisBecker muscular dystrophyBrugada syndromeCancer/NeoplasmCardiac arrhythmiaCardiomyopathyDeafnessDementia with Lewy bodiesDiabetesDuchenne muscular dystrophyEhlers-Danlos syndromeGaucher diseaseGlaucomaHypercholesterolemiaIchthyosisKeratoconusLong QT syndromeObesityParkinson's diseasePremature ovarian failureRetinitis pigmentosa
PubMedDOIMetascience Observatory
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Genetic association analyses of atopic illness and proinflammatory cytokine genes with type 1 diabetes
AssociationN=10,320Nada M. Saleh et al.(2011)· Diabetes/Metabolism Research and Reviews

This candidate gene association study examined genetic variants in atopic disease and proinflammatory cytokine genes for association with type 1 diabetes in 6,743-10,320 cases and 7,864-9,354 controls. The FLG R501X/rs61816761 (p=0.82), SELS -105/rs28665122 (p=0.08), and IL18 SNPs showed no association with T1D. However, four loci previously associated with asthma also showed significant association with T1D: HLA, GSDMB/ORMDL3/GSDMA (rs2305480, rs3894194, p≤1.2×10⁻⁶), and IL2RB (rs2284033, p=0.005), suggesting shared genetic susceptibility between atopic and autoimmune diseases.

Traits studied:AsthmaAtopic dermatitisAtopyType 1 diabetes
PubMedDOIMetascience Observatory

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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