Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146466242
rs146466242
FLG ; FLG-AS1
0.030 GeneticVariation BEFREE The most commonly detected mutations in Korean patients with AD were 3321delA (n=6, 9.1%) and K4022X (n=3, 4.5%). 28120571

2017
dbSNP: rs146466242
rs146466242
FLG ; FLG-AS1
0.030 GeneticVariation BEFREE Molecular analysis of the FLG gene in this study showed nine null and one unclassified mutation in 13 of 81 Korean patients with atopic dermatitis (AD): five novel null mutations (i.e. p.S1405*, c.5671_5672delinsTA, p.W1947*, p.G2025* and p.E3070*); four reported null mutations (i.e. c.3321delA, p.S1515*, p.S3296* and p.K4022*); and one unclassified mutation (i.e. c.306delAAAGCACAG). 25997159

2015
dbSNP: rs146466242
rs146466242
FLG ; FLG-AS1
0.030 GeneticVariation BEFREE Upon further screening, p.Lys4021X was identified in four patients with AE (2.9% of all the patients with AE). 19663875

2009