rs3936018

This is a regulatory region variant variant in the WARS2 gene.

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GWAS Catalog Trait Associations (3)

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

facial morphology trait

White JD et al. “Insights into the genetic architecture of the human face.” Nature Genetics 53(1):45-53 (2021)
Allele C
OR —
p 8.0e-58
N 4,680
Large GWAS
European

cerebral cortex area attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele C
OR 9.33
p 1.0e-20
N 33,748
Large GWAS
European
Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele C
OR —
p 1.0e-17
N 35,657
Large GWAS
European

calvaria morphology trait

Goovaerts S et al. “Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.” Nature Communications 14(1):7436 (2023)
Allele T
OR —
p 4.0e-19
N 6,772
Large GWAS
multi-ancestry

About WARS2

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

View all WARS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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