rs10852932

This variant is located in the SMG6 gene.

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GWAS Catalog Trait Associations (2)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele G

OR 0.01

p 3.0e-20

N 1,122,049

Large GWAS

European

bulb of aorta size

Ramachandran S. Vasan et al. “Genetic Variants Associated With Cardiac Structure and Function” Jama (2009)

Allele T

OR 0.03

p 2.0e-11

N 12,612

Large GWAS

European

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Research that mentions this SNP (1)

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Genetic Variants Associated With Cardiac Structure and Function

Meta-analysisN=16,706Ramachandran S. Vasan et al.(2009)· JAMA

Meta-analysis of genome-wide association studies in 12,612 individuals from the EchoGen consortium identified 16 genetic loci associated with echocardiographic traits in stage 1, with 5 loci replicating in stage 2: rs89107 and rs11153768 (6q22) associated with left ventricular diastolic dimensions (explaining <1% variance), and rs17470137, rs4026608, rs10770612, rs893817 (5q23, 12q14, 12p12, 15q24 loci) associated with aortic root size (explaining 1-3% variance).

Traits studied:Aortic root sizeLeft atrial sizeLeft ventricular diastolic internal dimensionsLeft ventricular massLeft ventricular systolic dysfunctionLeft ventricular wall thickness

PubMed DOI Metascience Observatory

About SMG6

This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]