rs217727

This is a coding sequence variant variant in the MRPL23 gene.

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GWAS Catalog Trait Associations (2)

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

breast carcinoma

Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele A
OR 0.06
p 4.0e-14
N 139,274
Large GWAS
multi-ancestry

systolic blood pressure

Hoffmann TJ et al. “Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.” Nature Genetics 49(1):54-64 (2017)
Allele G
OR 0.34
p 1.0e-9
N 321,262
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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H19 gene polymorphisms and Wilms tumor risk in Chinese children: a four‐center case‐control study
AssociationN=1,425Wenya Li et al.(2021)· Molecular Genetics &amp; Genomic Medicine

This four-center case-control study examined associations between H19 gene polymorphisms and Wilms tumor risk in 355 Chinese children with Wilms tumor and 1,070 cancer-free controls. Three H19 polymorphisms (rs2839698 G>A, rs3024270 C>G, rs217727 G>A) were significantly associated with Wilms tumor susceptibility. The rs2839698 AA genotype showed OR=1.52 (p=0.027) for increased risk, rs3024270 CG showed protective effect OR=0.61 (p=0.0007), and carriers of multiple risk genotypes had OR=1.84 (p=0.001) for 2 risk genotypes.

Traits studied:Wilms tumornephroblastoma
PubMedDOIMetascience Observatory
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A Genetic Variant in the Seed Region of miR-4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery Disease
ReviewMohsen Ghanbari et al.(2014)· Human Mutation

A comprehensive review of long non-coding RNA (lncRNA) genetic variants identified by GWAS studies in cardiometabolic diseases including coronary artery disease, myocardial infarction, type 2 diabetes, and blood pressure traits. The review highlights key lncRNA loci such as CDKN2B-AS1/ANRIL at 9p21.3 (rs10757278, rs2891168), MIAT (rs4977574, rs10811661), H19 (rs217727), LOC157273 (rs9987289, rs4841132), KCNQ1OT1 (rs231362), and LINC00243 (rs886424), discussing mechanisms of how genetic variants in non-coding RNA regions influence cardiovascular and metabolic disease risk.

Traits studied:AtherosclerosisBlood pressureCardiometabolic disordersCoronary artery calcificationCoronary artery diseaseFasting blood insulinHDL cholesterolLDL cholesterolMyocardial infarctionQT intervalTotal cholesterolTriglyceridesType 1 diabetesType 2 diabetes
PubMedDOIMetascience Observatory

About MRPL23

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 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008]

View all MRPL23 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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