rs61865883

This variant is located in the EGR2 gene.

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GWAS Catalog Trait Associations (1)

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

blood immunoglobulin amount

Wei Y et al. “Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies.” Nature Communications 15(1):8004 (2024)

Allele T

OR 0.87

p 2.0e-8

N 69,061

Large GWAS

East Asian

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Charcot-Marie-Tooth disease type 1D; not provided

View on ClinVar →

About EGR2

The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

View all EGR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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