rs4251969

This variant is located in the IL1RN gene.

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; Malignant lymphoma, large B-cell, diffuse; Familial cancer of breast

About IL1RN

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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