rs3816804

This is a regulatory region variant variant in the CS 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

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.02
p 6.0e-47
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele T
OR 0.11
p 6.0e-63
N 67,452
Large GWAS
East Asian
Yongchen Hao et al. “Genome-wide association study in Han Chinese identifies three novel loci for human height” Human Genetics (2013)
Allele T
OR 0.12
p 3.0e-9
N 6,534
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 CS

The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2008]

View all CS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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