rs7512552

This is a upstream gene variant variant in the MRPS21 gene.

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GWAS Catalog Trait Associations (3)

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

allergic disease

Ferreira MA et al. “Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.” Nature Genetics 49(12):1752-1757 (2017)
Allele C
OR 1.03
p 1.0e-9
N 360,838
Large GWAS
European

atopic eczema

Paternoster L et al. “Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.” Nature Genetics 47(12):1449-1456 (2015)
Allele C
OR 1.04
p 5.0e-9
N 116,863
Large GWAS
multi-ancestry

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR —
p 7.0e-13
N 563,352
Large GWAS
multi-ancestry

About MRPS21

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]

View all MRPS21 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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