rs147914249

This variant is located in the RHEX gene.

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ClinVar annotation

Likely Benign

1 submitter

RHEX-related disorder

About RHEX

Enables erythropoietin receptor binding activity. Involved in erythropoietin-mediated signaling pathway and positive regulation of erythrocyte differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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