IL1RN

interleukin 1 receptor antagonist

Summary

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]

Known Variants214 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7574427	2:113,860,038	G/A	upstream gene variant	—
rs17042888	2:113,862,173	G/T	—	—
rs17207494	2:113,864,010	A/C	upstream gene variant	—
rs10171849	2:113,865,834	A/C	upstream gene variant	—
rs315931	2:113,869,843	C/A	intron variant	—
rs17042917	2:113,870,663	G/A	upstream gene variant	—
rs315921	2:113,872,051	G/A	regulatory region variant	—
rs4251961	2:113,874,467	T/C	upstream gene variant	—
rs4251968	2:113,875,217	A/C	—	benign
rs2234676	2:113,875,428	G/A	—	benign
rs1458187927	2:113,875,501	C/G	—	uncertain significance
rs2234677	2:113,875,509	G/A	—	benign
rs45526933	2:113,875,513	G/A	—	likely benign
rs748164399	2:113,875,525	A/G	—	uncertain significance
rs2234678	2:113,875,565	A/G	regulatory region variant	benign
rs2234679	2:113,875,584	G/C	—	benign
rs1226009223	2:113,875,599	G/A	—	uncertain significance
rs2104433206	2:113,875,607	T/C	—	likely pathogenic
rs759724947	2:113,875,609	A/G	—	uncertain significance
rs1173082991	2:113,875,616	T/C	—	likely benign
rs753071748	2:113,875,619	A/C	—	likely benign
rs16065	2:113,875,631	T/C	—	benign
rs4251969	2:113,875,753	C/G	—	benign
rs4251970	2:113,875,773	A/G	—	benign
rs4251979	2:113,876,498	T/C	intron variant	—
rs2637988	2:113,876,779	G/A	intron variant	—
rs4251985	2:113,877,413	G/T	—	benign
rs928940	2:113,877,495	G/T	intron variant	benign
rs4251986	2:113,877,538	G/C	—	benign
rs2466916338	2:113,877,626	C/T	—	likely benign
rs747837384	2:113,877,627	A/C	—	likely benign
rs1686715665	2:113,877,648	T/G	—	uncertain significance
rs1173666705	2:113,877,650	G/T	—	uncertain significance
rs2104437414	2:113,877,651	T/C	—	uncertain significance
rs137932510	2:113,877,652	A/G	—	uncertain significance
rs2466916551	2:113,877,657	G/T	—	pathogenic
rs749244809	2:113,877,658	A/T	—	uncertain significance
rs770976676	2:113,877,660	G/C	—	uncertain significance
rs1573288353	2:113,877,676	G/A	—	uncertain significance
rs2104437489	2:113,877,680	A/G	—	likely benign
rs2466916722	2:113,877,684	G/T	—	pathogenic
rs369994270	2:113,877,690	A/C	—	uncertain significance
rs760885026	2:113,877,698	C/T	—	conflicting classifications of pathogenicity
rs878972	2:113,877,713	A/C	—	benign
rs745408148	2:113,877,715	T/C	—	likely benign
rs2466916942	2:113,877,723	T/C	—	likely benign
rs370592421	2:113,877,724	C/T	—	benign
rs3213448	2:113,879,297	G/C	—	—
rs315934	2:113,883,706	T/C	intron variant	—
rs439154	2:113,884,401	G/C	—	—
rs538999895	2:113,885,224	G/A	—	likely benign
rs368716176	2:113,885,240	T/A	—	likely benign
rs970470359	2:113,885,258	C/G	—	likely benign
rs112879651	2:113,885,263	C/G	—	likely pathogenic
rs763872895	2:113,885,264	A/G	—	likely pathogenic
rs55860727	2:113,885,269	C/T	—	uncertain significance
rs2232353	2:113,885,270	G/A	—	likely benign
rs1687011890	2:113,885,272	T/A	—	uncertain significance
rs758363942	2:113,885,278	G/A	—	uncertain significance
rs747206860	2:113,885,280	C/T	—	uncertain significance
rs1687013175	2:113,885,298	A/G	—	uncertain significance
rs573468124	2:113,885,300	C/G	—	uncertain significance
rs144691672	2:113,885,309	A/G	—	likely benign
rs1573301763	2:113,885,310	G/T	—	uncertain significance
rs1196484487	2:113,885,312	C/T	—	likely benign
rs139856782	2:113,885,315	C/T	—	likely benign
rs4252004	2:113,885,322	G/A	—	benign
rs753494695	2:113,885,327	C/A	—	likely benign
rs1558867545	2:113,885,330	C/T	—	likely benign
rs138621002	2:113,885,332	A/G	—	likely benign
rs3181052	2:113,886,049	G/A	intron variant	—
rs1794066	2:113,886,350	A/G	intron variant	—
rs764914994	2:113,887,135	A/C	—	likely benign
rs1687085849	2:113,887,136	G/C	—	likely benign
rs373136455	2:113,887,144	C/T	—	conflicting classifications of pathogenicity
rs1019766125	2:113,887,169	C/T	—	pathogenic
rs2104455713	2:113,887,177	C/G	—	likely benign
rs2466954053	2:113,887,181	T/C	—	uncertain significance
rs1022748861	2:113,887,192	C/T	—	likely benign
rs756418307	2:113,887,195	C/T	—	likely benign
rs121913162	2:113,887,196	C/T	stop gained	pathogenic
rs557348234	2:113,887,202	G/A	—	uncertain significance
rs777996358	2:113,887,205	G/T	—	uncertain significance
rs419598	2:113,887,207	T/C	synonymous variant	benign
rs1281227831	2:113,887,209	G/T	—	uncertain significance
rs1203011392	2:113,887,221	G/A	—	uncertain significance
rs545976021	2:113,887,222	A/G	—	likely benign
rs146473306	2:113,887,228	T/C	—	conflicting classifications of pathogenicity
rs761355602	2:113,887,233	A/G	—	uncertain significance
rs762763281	2:113,887,249	G/A	—	uncertain significance
rs1573305780	2:113,887,256	G/A	—	likely benign
rs423904	2:113,887,262	C/T	intron variant	benign
rs446433	2:113,887,273	G/A	—	benign
rs495282	2:113,887,294	G/C	—	benign
rs2232354	2:113,887,335	G/T	—	benign
rs495410	2:113,887,338	A/C	—	benign
rs4252014	2:113,887,376	G/A	—	benign
rs442710	2:113,887,399	G/A	—	benign
rs408392	2:113,887,458	G/T	—	benign
rs2071459	2:113,887,483	C/T	—	benign

Showing 100 of 214 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.