rs6684514
This is a protein-altering variant in the SMG5 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
HbA1c measurement
Chen P et al. “Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.” Diabetes 63(7):2551-62 (2014)
Allele G
OR 0.09
p 1.0e-23
N 19,017
Large GWAS
multi-ancestry
hemoglobin measurement, mean corpuscular hemoglobin concentration
Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele A
OR 0.09
p 3.0e-9
N 14,377
Large GWAS
East Asian
About SMG5
SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]
View all SMG5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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