Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7927894
rs7927894
0.840 GeneticVariation BEFREE We found that rs7927894 T was associated with atopic dermatitis (OR = 1.39, CI: 1.12-1.73, P = 0.003) and independently with persistent allergic rhinitis (OR = 1.24, CI:1.07-1.43, P = 0.0043, Pcorrected = 0.013) but not atopic asthma. 28886043

2017

dbSNP: rs7927894
rs7927894
0.840 GeneticVariation BEFREE The loci rs7927894 (11p13.5) are related to AD with a positive family history of atopy in Chinese Han population, providing novel insight into the genetic pathogenesis of AD. 27007831

2016

dbSNP: rs7927894
rs7927894
0.840 GeneticVariation BEFREE In summary our data show a statistically significant association of the rs7927894 variant on chromosome 11q13.5 with atopic dermatitis but not with other disease-related phenotypes. 23557745

2013

dbSNP: rs7927894
rs7927894
0.840 GeneticVariation BEFREE The association between rs7927894 and atopic eczema was replicated in this population (P = .0025, chi(2) test; odds ratio, 1.27; 95% CI, 1.09-1.49). 20109745

2010

dbSNP: rs2897442
rs2897442
0.820 GeneticVariation BEFREE We confirmed the correlation between rs2897442 and rs479844 and AD in this population at both the genotype and allele levels. 26127003

2015

dbSNP: rs479844
rs479844
0.820 GeneticVariation BEFREE We confirmed the correlation between rs2897442 and rs479844 and AD in this population at both the genotype and allele levels. 26127003

2015

dbSNP: rs2897442
rs2897442
0.820 GeneticVariation BEFREE To verify the association, between AE and rs479844, rs2164983, and rs2897442, target for OVOLI (11q13), ACTL9 (19p13.2), and in KIF3A (5q31) genes in the Italian population. 23278845

2013

dbSNP: rs479844
rs479844
0.820 GeneticVariation BEFREE To verify the association, between AE and rs479844, rs2164983, and rs2897442, target for OVOLI (11q13), ACTL9 (19p13.2), and in KIF3A (5q31) genes in the Italian population. 23278845

2013

dbSNP: rs12634229
rs12634229
0.810 GeneticVariation BEFREE We found that rs12634229 (3q13.2), rs7927894 (11p13.5) and rs878860 (11p15.4) showed a slight association with AD (P = 0.012, P = 0.033, P = 0.020, respectively); rs6780220 (3p21.33) was preferentially related to AD with keratosis pilaris, but did not reach the threshold of significance after correction. 27007831

2016

dbSNP: rs4722404
rs4722404
0.810 GeneticVariation BEFREE Association between atopic dermatitis-related single nucleotide polymorphisms rs4722404 and psoriasis vulgaris in a southern Chinese cohort. 27421022

2016

dbSNP: rs878860
rs878860
0.810 GeneticVariation BEFREE We found that rs12634229 (3q13.2), rs7927894 (11p13.5) and rs878860 (11p15.4) showed a slight association with AD (P = 0.012, P = 0.033, P = 0.020, respectively); rs6780220 (3p21.33) was preferentially related to AD with keratosis pilaris, but did not reach the threshold of significance after correction. 27007831

2016

dbSNP: rs2164983
rs2164983
0.810 GeneticVariation BEFREE No correlation between rs2164983 and AD was identified. 26127003

2015

dbSNP: rs3126085
rs3126085
0.810 GeneticVariation BEFREE Our recent GWAS identified three susceptibility gene/loci FLG (rs11204971 and rs3126085), 5q22.1 (rs10067777, rs7701890, rs13360927 and rs13361382) and 20q13.33 (rs6010620) to AD. 22545103

2012

dbSNP: rs6010620
rs6010620
0.810 GeneticVariation BEFREE These SNPs (rs11204971, rs3126085, rs7936562, rs712484 and rs6010620) at AD susceptibility genes/loci FLG, 11q13.5 and 20q13.33 were not associated with asthma in this study. 22545103

2012

dbSNP: rs2155219
rs2155219
0.810 GeneticVariation BEFREE Variants in a locus near chromosome 11 open reading frame 30 (C11orf30) and leucine-rich repeat containing 32 (LRRC32), which was previously associated with atopic dermatitis and eczema, were also strongly associated with both phenotypes (rs2155219; P(grass) = 9.4 × 10(-9); P(AR) = 3.8 × 10(-8)). 22036096

2011

dbSNP: rs61816761
rs61816761
0.800 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
0.800 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
0.800 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
0.800 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
0.800 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
0.800 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
0.800 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
0.800 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
0.800 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
0.800 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