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.

serum metabolite level

Allele A
OR 0.23
p 9.0e-26
N 3,926
Large GWAS
Hispanic or Latin American

total cholesterol measurement

Allele G
OR 0.01
p 2.0e-16
N 1,320,016
Large GWAS
European

aspartate aminotransferase measurement

Allele A
OR 7.14
p 1.0e-12
N 389,565
Large GWAS
multi-ancestry

bile salt sulfotransferase measurement

Allele G
OR 0.04
p 7.0e-12
N 47,745
Large GWAS
European

asthma

Allele G
OR 0.09
p 2.0e-11
N 127,669
Large GWAS
European

psoriasis

Allele A
OR 0.07
p 3.0e-10
N 472,819
Meta-analysisLarge GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Allele A
OR 0.02
p 6.0e-9
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

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 Cells
FunctionalKaiyu Jiang et al.(2015)· Arthritis &amp; 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.

Traits studied:Juvenile Idiopathic Arthritis (JIA)

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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