rs73081554

This is a upstream gene variant variant in the RPP14 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

mitochondrial heteroplasmy measurement

Nandakumar P et al. “Nuclear genome-wide associations with mitochondrial heteroplasmy.” Science Advances 7(12) (2021)
Allele T
OR 0.01
p 3.0e-14
N 982,072
Large GWAS
European

rheumatoid arthritis

Kim K et al. “High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.” Annals of the Rheumatic Diseases 74(3):e13 (2015)
Allele A
OR 1.21
p 1.0e-8
N 55,089
Large GWAS
multi-ancestry
Okada Y et al. “Genetics of rheumatoid arthritis contributes to biology and drug discovery.” Nature 506(7488):376-381 (2014)
Allele A
OR 1.18
p 5.0e-8
N 79,799
Large GWAS
multi-ancestry
Laufer VA et al. “Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.” Human Molecular Genetics 28(5):858-874 (2019)
Allele A
OR 0.17
p 5.0e-8
N 2,308
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Reduction of CD83 Expression on B Cells and the Genetic Basis for Rheumatoid Arthritis: Comment on the Article by Thalayasingam et al
FunctionalN=16Yumi Tsuchida et al.(2018)· Arthritis &amp; Rheumatology

This functional study integrates epigenomic datasets (ATAC-seq, Hi-C, ChIP-seq, RNA-seq) from fibroblast-like synoviocytes (FLS) to map the functional relevance of 101 fine-mapped rheumatoid arthritis GWAS associations. FLS regulatory elements account for 24% of RA heritability, and the study assigns putative target genes to RA risk loci, identifying TNFAIP3, IFNAR1, CDK6, RBPJ and others as disease-relevant genes. TNF stimulation reveals dynamic chromatin interactions and differential gene expression at RA-associated regulatory regions.

Traits studied:Rheumatoid arthritis
PubMedDOIMetascience Observatory

About RPP14

This gene encodes a subunit of ribonuclease P and has 3' to 5' exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxyacyl-thioester dehydratase type 2 (HTD2) gene. [provided by RefSeq, May 2017]

View all RPP14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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