rs7217226

This is a intron variant variant in the SMG6 gene.

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GWAS Catalog Trait Associations (4)

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

osteoarthritis, knee, body mass index

Zhang L et al. “A sex- and site-specific relationship between body mass index and osteoarthritis: evidence from observational and genetic analyses.” Osteoarthritis and Cartilage 31(6):819-828 (2023)
Allele T
OR —
p 2.0e-22
N 1,202,888
Large GWAS
European

open-angle glaucoma

Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele T
OR 0.07
p 2.0e-17
N 432,017
Large GWAS
multi-ancestry

body mass index

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele T
OR 0.01
p 9.0e-16
N 806,834
Meta-analysisLarge GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.01
p 9.0e-16
N 694,649
Large GWAS
European
Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)
Allele T
OR 0.01
p 2.0e-13
N 650,000
Large GWAS
European

waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele T
OR 0.01
p 1.0e-14
N 697,734
Meta-analysisLarge GWAS
European

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]

View all SMG6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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