rs2663345

This is a coding sequence variant variant in the ABR 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 height

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.01
p 3.0e-17
N 394,642
Large GWAS
European
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.01
p 5.0e-14
N 405,540
Large GWAS
European

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele A
OR 0.01
p 2.0e-13
N 405,979
Large GWAS
European
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Research that mentions this SNP (1)

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The association of common polymorphisms in miR-196a2 with waist to hip ratio and miR-1908 with serum lipid and glucose
AssociationN=73,014Mohsen Ghanbari et al.(2015)· Obesity

Two miRNA genetic variants were identified as significantly associated with cardiometabolic phenotypes: rs11614913 in miR-196a2 associated with waist-to-hip ratio (P=1.7e-25), and rs174561 in miR-1908 associated with lipid and glucose traits. Functional analyses revealed these variants affect pre-miRNA processing and regulate target genes involved in fat distribution and lipid metabolism.

Traits studied:HDL-cholesterolLDL-cholesterolblood pressurebody mass indexcardiometabolic phenotypesfasting glucosetotal cholesteroltriglycerideswaist-to-hip ratio
PubMedDOIMetascience Observatory

About ABR

This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]

View all ABR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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