rs913257

This variant is located in the GORAB gene.

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GWAS Catalog Trait Associations (2)

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

level of liver carboxylesterase 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.04

p 2.0e-18

N 47,745

Large GWAS

European

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)

Allele G

OR 0.01

p 1.0e-10

N 426,824

Large GWAS

European

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ClinVar annotation

Benign★★★☆

7 submitters2 publications

not specified; Geroderma osteodysplastica; not provided

View on ClinVar →

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Research that mentions this SNP (1)

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Whole exome sequencing identifies variation in CYB5A and RNF10 associated with adiposity and type 2 diabetes

AssociationN=7,667Ke Huang et al.(2014)· Obesity

Whole exome sequencing in 177 Pima Indians identified rs7238987 in CYB5A associated with body fatness (p=7.0×10⁻⁶) and a novel RNF10 variant (R151H) associated with adiposity. Both SNPs and variants increased risk for Type 2 Diabetes (rs7238987: OR=1.13, p=0.01; RNF10: OR=1.49, p=9.5×10⁻³), with effects mediated through body mass index. CYB5A encodes a component of stearoyl-CoA desaturase, while RNF10's role in obesity was supported by knockout mouse data.

Traits studied:AdiposityBody FatnessBody Mass IndexInsulin ResistanceInsulin SecretionType 2 Diabetes

PubMed DOI Metascience Observatory

About GORAB

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]