rs6894249
This is a 3 prime utr variant variant in the IRF1-AS1 gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
tryptophan betaine measurement
serum metabolite level
level of N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming in blood
total cholesterol measurement
aspartate aminotransferase measurement
bile salt sulfotransferase measurement
asthma
psoriasis
low density lipoprotein cholesterol measurement
▶Research that mentions this SNP (1)
▶Disease‐Associated Single‐Nucleotide Polymorphisms From Noncoding Regions in Juvenile Idiopathic Arthritis Are Located Within or Adjacent to Functional Genomic Elements of Human Neutrophils and CD4+ T CellsFunctionalKaiyu Jiang et al.(2015)· Arthritis & Rheumatology
This functional study investigates disease-associated SNPs from non-coding genomic regions in juvenile idiopathic arthritis (JIA) by mapping enhancer-associated histone marks (H3K4me1 and H3K27ac) in human neutrophils and CD4+ T cells. The authors identified H3K4me1 and/or H3K27ac marks in 15 of 22 JIA risk regions in neutrophils and 18 of 22 regions in CD4+ T cells, and confirmed non-coding RNA transcripts at rs4705862 and rs6894249 loci in neutrophils, demonstrating that JIA-associated genetic risk resides largely within functional, non-coding regulatory elements.
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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