rs7481584

This is a intron variant variant in the CARS1 gene.

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GWAS Catalog Trait Associations (1)

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

calcium measurement

O'Seaghdha CM et al. “Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.” Plos Genetics 9(9):e1003796 (2013)
Allele A
OR 0.02
p 1.0e-10
N 39,400
Meta-analysisLarge GWAS
European
Young WJ et al. “Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank.” Circulation. Genomic and Precision Medicine 14(3):e003231 (2021)
Allele A
OR 0.02
p 1.0e-10
N 305,349
Major Consortium StudyLarge GWAS
European

About CARS1

This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]

View all CARS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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