Rs2076530

rs2076530(A) was estimated to double the risk of developing sarcoidosis, at least as based on a study of Caucasians.

Although by itself it was not associated with increased risk for sarcoidosis in a population of African descent, this allele was part of a disease-associated haplotype.

The rs2076530 SNP has also been investigated for associations with multiple sclerosis, Type-1 diabetes, SLE, and rheumatoid arthritis, but any association seen has apparently been due to carryover effects from nearby major histocompatibility haplotypes. [PMID 16690410, PMID 16321988]

rs2076530(A;A) associated with a risk of sensitization towards Der f allergies (Odds ratio; 1.55, p = 0.0060)