|| common in clinvar
|| Ichthyosis vulgaris (more severe form likely)
|| Ichthyosis, mild form (possible)
rs61816761, also known as c.1501C>T, p.Arg501Ter and R501X, is a mutation in the FLG gene on chromosome 1.
Considered a condition inherited in a semidominant manner, ichthyosis vulgaris is associated in mild and more severe forms with inheriting either one or two copies, respectively, of the rs61816761(A) mutation. This mutation is perhaps the best known of a relatively large number of loss-of-function (LoF) mutations in the FLG gene that lead to increased risk for ichthyosis vulgaris, atopic dermatitis and eczema.
[PMID 22069270] rs61816761 is located in the FLG locus; one of the major loci associated with atopic dermatitis and asthma predisposition. In this study of 7688 type 1 diabetes patients and 9354 controls, the association between rs61816761 and type 1 diabetes was examined. The odds ratios (95% confidence intervals) were 1.01 (0.88-1.17), 1.02 (0.88-1.18), and 0.88 (0.20-3.81) for the T, T;C, and T;T minor alleles/genotypes, respectively, as compared to C;C (P=0.082). In other words, there is no association between Rs61816761 and type 1 diabetes.