rs907092

This is a synonymous variant in the IKZF3 gene — it does not change the protein's amino acid sequence.

▶

GWAS Catalog Trait Associations (4)

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

leukocyte quantity

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.06
p 1.0e-14
N 38,000
Large GWAS
South Asian

neutrophil count

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.05
p 3.0e-13
N 38,000
Large GWAS
South Asian

asthma

Yan Q et al. “A meta-analysis of genome-wide association studies of asthma in Puerto Ricans.” The European Respiratory Journal 49(5) (2017)
Allele G
OR 1.41
p 1.0e-12
N 5,037
Meta-analysis
Hispanic or Latin American
Daya M et al. “Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.” Nature Communications 10(1):880 (2019)
Allele G
OR 1.25
p 4.0e-12
N 14,654
Large GWAS
multi-ancestry

childhood onset asthma

Espuela-Ortiz A et al. “Role of Sex on the Genetic Susceptibility to Childhood Asthma in Latinos and African Americans.” Journal of Personalized Medicine 11(11) (2021)
Allele A
OR 0.69
p 6.0e-11
N 3,075
Large GWAS
African unspecified, European, Native American
▶

ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

not specified

View on ClinVar →

About IKZF3

This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]

View all IKZF3 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…