rs224278
This is a upstream gene variant variant in the EGR2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Ewing sarcoma
Postel-Vinay S et al. “Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.” Nature Genetics 44(3):323-7 (2012)
Allele C
OR 1.66
p 4.0e-17
N 4,779
Large GWAS
European
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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