Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138726443
rs138726443
0.030 GeneticVariation BEFREE Prevalence of FLG loss-of-function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis. 31637781

2020

dbSNP: rs138726443
rs138726443
0.030 GeneticVariation BEFREE FLG mutations (R501X, 2282del4, and R2447X) were identified in 16.9% of patients, and were significantly associated not only with atopic dermatitis, but also independently with skin fissures on the fingers and heels, and self-reported actinic keratosis. 27995642

2017

dbSNP: rs138726443
rs138726443
0.030 GeneticVariation BEFREE Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis. 19874431

2010