rs13003464

This is a intron variant variant in the PUS10 gene.

GWAS Catalog Trait Associations (3)

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

celiac disease

Allele G
OR 1.17
p 4.0e-16
N 24,269
Large GWAS
multi-ancestry
Allele G
OR 1.15
p 4.0e-13
N 15,283
Large GWAS
European

Crohn's disease

Allele G
OR 1.05
p 5.0e-9
N 2,994
Large GWAS
European

ulcerative colitis

Allele G
OR 1.18
p 7.0e-9
N 9,484
Large GWAS
European

Research that mentions this SNP (2)

Genetic variants associated with celiac disease and the risk for coronary artery disease
Meta-analysisN=86,995Henning Jansen et al.(2015)· Molecular Genetics and Genomics

This meta-analysis of 22,233 CAD cases and 64,762 controls tested 41 celiac disease-associated SNPs for association with coronary artery disease (CAD). While 58.5% of celiac disease risk alleles showed positive association with CAD (OR 1.001-1.081), this was not significantly different from the 50% expected by chance (p=0.069). Only rs653178 at the SH2B3/ATXN2 locus achieved study-wide statistical significance (OR 1.081, p=2.2×10⁻⁶), likely through pleiotropic effects. The findings provide no convincing evidence that genetic variants associated with celiac disease contribute to CAD risk.

Traits studied:Celiac diseaseCoronary artery disease
Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci
Meta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology

This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.

Traits studied:Celiac diseaseCrohn's diseaseMultiple sclerosisPsoriasisRheumatoid arthritisSystemic lupus erythematosusType 1 diabetesUlcerative colitis

About PUS10

Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]

View all PUS10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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