rs4983387

This variant is located in the ZBTB42 gene.

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GWAS Catalog Trait Associations (3)

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

high density lipoprotein cholesterol measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele A
OR 0.05
p 5.0e-33
N 288,127
Large GWAS
East Asian
Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele A
OR 0.02
p 2.0e-11
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.04
p 3.0e-14
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified
Lee SB et al. “Dyslipidaemia-Genotype Interactions with Nutrient Intake and Cerebro-Cardiovascular Disease.” Biomedicines 10(7) (2022)
Allele A
OR 0.52
p 7.0e-12
N 58,701
Large GWAS
East Asian

prostate carcinoma

Wang A et al. “Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants.” Nature Genetics 55(12):2065-2074 (2023)
Allele A
OR 1.04
p 3.0e-10
N 944,762
Large GWAS
multi-ancestry

total cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele G
OR 0.02
p 3.0e-10
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
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ClinVar annotation

Benign★★★☆
4 submitters1 publication

Lethal congenital contracture syndrome 6; not provided

View on ClinVar →

About ZBTB42

The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]

View all ZBTB42 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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