rs7833986

This is a intron variant variant in the PLAG1 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.04
p 1.0e-300
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Okada Y et al. “A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.” Human Molecular Genetics 19(11):2303-12 (2010)
Allele A
OR 0.12
p 8.0e-10
N 19,633
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Genome-wide association study in Han Chinese identifies three novel loci for human height
Meta-analysisN=8,415Yongchen Hao et al.(2013)· Human Genetics

A meta-analysis of genome-wide association studies in 6,534 Han Chinese subjects identified three novel loci for human height at rs12612930 (ZNF638), rs11021504 (MAML2), and rs11082671 (C18orf12) reaching genome-wide significance (P < 5 × 10⁻⁸), along with confirmation of two previously reported loci (CS and CYP19A1). The study provided supporting evidence for 35 SNPs from previous GWAS and demonstrates substantial genetic overlap between Asian and European populations for this complex trait.

Traits studied:Human height
PubMedDOIMetascience Observatory

About PLAG1

Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all PLAG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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