rs780151

This is a regulatory region variant variant in the ZMIZ1 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

Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele G
OR 1.13
p 2.0e-9
N 16,196
Meta-analysisLarge GWAS
European

preserved ratio impaired spirometry

Higbee DH et al. “Genome-wide association study of preserved ratio impaired spirometry (PRISm).” The European Respiratory Journal 63(1) (2024)
Allele G
OR 1.01
p 2.0e-9
N 289,782
Large GWAS
European

About ZMIZ1

This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]

View all ZMIZ1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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