rs1347677

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GWAS Catalog Trait Associations (1)

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

sodium measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 2.0e-13
N 603,171
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genetic variants in the SOX6 gene are associated with bone mineral density in both Caucasian and Chinese populations
AssociationN=4,913Yang TL et al.(2012)· Osteoporosis International

This fine-mapping association study identified 20 SNPs in the SOX6 gene significantly associated with hip bone mineral density (BMD) across Caucasian and Chinese populations. The most significant SNP was rs1347677 (P=3.15×10⁻⁷) located in intron 3, associated with reduced hip BMD (beta=-0.0173 to -0.0094). The previously reported SNP rs7117858 was successfully replicated (P=2.45×10⁻⁴). Notably, the association showed skeletal site specificity with no significant associations detected for spine BMD.

Traits studied:Bone mineral densityHip BMDOsteoporosisSpine BMD
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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