rs6763931

This is a regulatory region variant variant in the ZBTB38 gene.

▶

GWAS Catalog Trait Associations (5)

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 0.07
p 4.0e-240
N 455,180
Large GWAS
Hispanic or Latin American
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 5.0e-40
N 67,452
Large GWAS
East Asian
He M et al. “Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.” Human Molecular Genetics 24(6):1791-800 (2015)
Allele A
OR 0.06
p 6.0e-34
N 36,227
Meta-analysisLarge GWAS
East Asian
Gudbjartsson DF et al. “Many sequence variants affecting diversity of adult human height.” Nature Genetics 40(5):609-15 (2008)
Allele A
OR 7.40
p 1.0e-27
N 30,968
Large GWAS
European

atrial fibrillation

Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele A
OR 1.03
p 1.0e-10
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry

platelet volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.01
p 4.0e-10
N 408,112
Large GWAS
European

prostate carcinoma

Kote-Jarai Z et al. “Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.” Nature Genetics 43(8):785-91 (2011)
Allele T
OR 1.04
p 2.0e-8
N 13,560
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
A genome-wide association study of prostate cancer in West African men
AssociationN=932Michael Blaise Cook et al.(2014)· Human Genetics

Genome-wide association study of 474 prostate cancer cases and 458 controls from West African men identified a novel prostate cancer susceptibility locus at 10p14 marked by rs7918885 (p=1.29×10⁻⁷), localized to an intron of the lncRNA gene RP11-543F8.2. A stratified analysis by Gleason score revealed additional associations including rs34575154 in PCDHA1 at 5q31.3 (p=3.66×10⁻⁸) for high-grade disease and rs985081 at Xq28 (p=8.66×10⁻⁹) for low-grade disease. Validation in the African Ancestry Prostate Cancer GWAS Consortium showed limited replication, with only rs2993385 at 10p14 reaching nominal significance (p<0.05), highlighting population-specific genetic architecture.

Traits studied:Prostate cancerProstate cancer (high-grade/Gleason score ≥7)Prostate cancer (low-grade/Gleason score <7)
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…