rs192783417

This is a upstream gene variant variant in the EQTN gene.

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GWAS Catalog Trait Associations (1)

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

hemolytic anemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 1.95
p 9.0e-12
N 572,191
Major Consortium StudyLarge GWAS
multi-ancestry

About EQTN

Predicted to be involved in acrosomal vesicle exocytosis; endocytosis; and fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to act upstream of or within establishment of localization in cell. Predicted to be located in early endosome and nucleus. Predicted to be active in inner acrosomal membrane; outer acrosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all EQTN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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