rs6900923

This variant is located in the PLAGL1 gene.

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GWAS Catalog Trait Associations (1)

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

adult onset asthma, body mass index

Zhu Z et al. “Shared genetic and experimental links between obesity-related traits and asthma subtypes in UK Biobank.” The Journal of Allergy and Clinical Immunology 145(2):537-549 (2020)

Allele C

OR —

p 5.0e-10

N 457,822

Major Consortium StudyLarge GWAS

European

About PLAGL1

This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]

View all PLAGL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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