rs2073577

This variant is located in the GFI1B gene.

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GWAS Catalog Trait Associations (1)

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

erythrocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.02

p 1.0e-20

N 394,642

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Brief Report: Enrichment of associations in genes with fibrosis, apoptosis, and innate immunity functions with cardiac manifestations of neonatal lupus

AssociationN=3,467Paula S. Ramos et al.(2012)· Arthritis & Rheumatism

Pathway-based GWAS in 116 cardiac neonatal lupus children and 3,351 controls identified significant enrichment of genetic associations in genes related to fibrosis (P=2.27×10⁻⁹), apoptosis (P=7.67×10⁻⁷), and innate immunity (P=2.53×10⁻⁶). The strongest non-HLA associations were ST8SIA2 (rs1487982, OR=2.20), ITGA1 (rs2432143, OR=2.31), and CSMD1 (rs7002001, OR=2.41), implicating dysregulation of inflammatory and fibrotic pathways in cardiac manifestations of neonatal lupus.

Traits studied:Cardiac manifestations of neonatal lupusCardiomyopathyHeart block

PubMed DOI Metascience Observatory

About GFI1B

This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]