rs6440003

This is a intron variant variant in the ZBTB38 gene.

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GWAS Catalog Trait Associations (5)

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

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.05
p 6.0e-51
N 186,825
Major Consortium StudyLarge GWAS
European

body height

Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele A
OR 0.07
p 7.0e-40
N 67,452
Large GWAS
East Asian
N'Diaye A et al. “Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.” Plos Genetics 7(10):e1002298 (2011)
Allele A
OR 0.07
p 2.0e-10
N 20,427
Large GWAS
multi-ancestry
Weedon MN et al. “Genome-wide association analysis identifies 20 loci that influence adult height.” Nature Genetics 40(5):575-83 (2008)
Allele A
OR 0.07
p 2.0e-24
N 13,665
Large GWAS
European

level of period circadian protein homolog 3 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 1.0e-14
N 47,745
Large GWAS
European

waist circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.02
p 3.0e-10
N 143,480
Large GWAS
multi-ancestry

glomerular filtration rate

Morris AP et al. “Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.” Nature Communications 10(1):29 (2019)
Allele A
OR 0.41
p 4.0e-10
N 312,296
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci
AssociationN=3,571Shu-Feng Lei et al.(2009)· Human Genetics

Genome-wide association study in 618 Northern Chinese and replication in 2,953 Southern Chinese identified 13 contiguous SNPs in the ZNF510/ZNF782 region significantly associated with stature (P = 9.71×10^-5 to 3.11×10^-6, FDR q = 0.036-0.046). The most significant SNP rs10816533 replicated in Southern Chinese (P = 0.029, combined P = 1.55×10^-6), suggesting this is an ethnic-specific locus for height variation in Chinese populations.

Traits studied:Adult heightHuman stature
PubMedDOIMetascience Observatory

About ZBTB38

The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]

View all ZBTB38 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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