Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		A 0.800 CausalMutation CLINVAR We evaluated the association of the loss-of-function mutations R501X and 2282del4 within the FLG gene in a large collection of 476 well-characterized white German families with AD by using the transmission-disequilibrium test. 16815158

2006
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		A 0.800 CausalMutation CLINVAR Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. 16444271

2006
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		A 0.800 CausalMutation CLINVAR Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. 17030239

2006
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		A 0.800 CausalMutation CLINVAR Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. 16550169

2006