Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61816761
rs61816761
0.900 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE Two novel FLG LOF singletons, c.488delG and p.S3101*, were discovered as well as p.R501*, p.R826* and p.S3316* previously reported for AD. p.S3316* (rs149484917) is likely an African ancestral FLG LOF, reported in African individuals in ExAC (Exome Aggregation Consortium), Exome Variant Server (ESP), and 4 African 1000G population databases (ESN, MSL, ASW, and ACB). 29791750

2018

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE In a sample of Turkish children, FLG R501X genotyping revealed no risk alleles in variable severities of AD or healthy controls. 22989708

2013

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE We evaluated a multiyear prospective cohort study of children with AD with respect to FLG null mutations (R501X, 2282del4, R2447X, and S3247X). 22951058

2012

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE In total, 3202 adults aged 18-69 years were patch tested, filaggrin genotyped for 2282del4 and R501X and questioned about AD. 22283138

2012

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE The R501X and/or 2282del4 filaggrin null mutations were present in 26 (15%) of children with atopic dermatitis and were primarily associated with predilection to exposed skin areas (especially the cheeks and back of the hands) and an up-regulation of both acute and chronic dermatitis. 23166590

2012

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE In a Polish population FLG 2282del4 and R501X carriage increases risk for development of AD and atopic asthma (also in the absence of AD or history thereof). 21365004

2011

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE In the Polish patients with AD, the prevalence of FLG mutations was higher in patients with AD than in the controls and 2282del4 FLG mutation was more frequent than R501X, and it was associated with a 6-fold higher risk for AD development (P < 0.001; OR: 5.76), moderate or severe disease course, early onset of asthma and palmar hyperlinearity. 21426411

2011

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE We genotyped single nucleotide polymorphisms (SNPs): -105/rs28665122 in SELS or SEPS1 (selenoprotein), three single nucleotide polymorphisms in IL18 (-105/rs360717, +183/rs5744292 and +1467/rs574456) and R501X/rs61816761 in FLG, the major locus associated with atopic dermatitis and predisposing to asthma, in a minimum of 6743 T1D cases and 7864 controls. 22069270

2011

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE The R501X mutation in the gene encoding filaggrin, one of the strongest genetic predictors of AD, confers an even greater risk for ADEH in both European and African ancestry populations, suggesting a role for defective skin barrier in this devastating condition. 19733298

2009

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE FLG mutations R501X, 2282del4 and R2447X were genotyped in the Prevention and Incidence of Asthma and Mite Allergy birth cohort (n = 934) to evaluate longitudinally, for up to 8 years, their association with eczema, sensitization, asthma, hay fever and their interaction with cat exposure. 19839980

2009

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE We found a highly significant association of the FLG null variants R501X- and 2282del4 with AD (combined genotype p < 0.0001) and asthma (combined genotype p < 0.0001). 19538357

2009

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE Recent studies have identified 2 loss-of-function variants, R501X and 2282del4, in the filaggrin gene as predisposing factors in the development of eczema. 18176743

2008

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE Mutations in FLG/(R501X and 2282del4) are reported to be strongly associated with AD and to influence asthma accompanying AD. 17301831

2007

dbSNP: rs61816761
rs61816761
0.900 GeneticVariation BEFREE Recently, 2 loss-of-function mutations (R501X and 2282derl4) in the filaggrin gene (FLG) that cause ichthyosis vulgaris, one of the most common inherited skin disorders of keratinization, have been reported to be strong predisposing factors for AD. 16815158

2006

dbSNP: rs61816761
rs61816761
A 0.900 CausalMutation CLINVAR