TNFRSF11B

TNF receptor superfamily member 11b

Summary

The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

Known Variants180 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1397220907	8:119,935,814	C/T	—	uncertain significance
rs189721016	8:119,935,931	A/G	—	uncertain significance
rs529941362	8:119,936,004	C/T	—	uncertain significance
rs7815440	8:119,936,030	A/T	—	benign
rs11573947	8:119,936,068	A/G	—	likely benign
rs1812213517	8:119,936,108	T/C	—	uncertain significance
rs1421622252	8:119,936,126	A/G	—	uncertain significance
rs574050965	8:119,936,150	A/T	—	uncertain significance
rs1379870216	8:119,936,201	T/C	—	uncertain significance
rs7815884	8:119,936,246	C/T	—	benign
rs888097904	8:119,936,264	A/T	—	uncertain significance
rs569762226	8:119,936,400	G/A	—	uncertain significance
rs886062646	8:119,936,406	G/C	—	uncertain significance
rs1812218708	8:119,936,447	G/C	—	uncertain significance
rs11573944	8:119,936,546	G/A	—	uncertain significance
rs2129877362	8:119,936,614	T/A	—	pathogenic
rs772520936	8:119,936,627	T/G	—	uncertain significance
rs759091942	8:119,936,646	G/C	—	uncertain significance
rs1375250340	8:119,936,653	A/G	—	uncertain significance
rs1804854	8:119,936,669	A/G	—	benign
rs2488045616	8:119,936,677	T/C	—	uncertain significance
rs751356592	8:119,936,679	C/G	—	uncertain significance
rs34353469	8:119,936,708	A/C	—	uncertain significance
rs749484101	8:119,936,710	C/T	—	uncertain significance
rs149720389	8:119,936,717	T/A	—	uncertain significance
rs773779681	8:119,936,722	T/G	—	uncertain significance
rs769203476	8:119,936,743	T/G	—	uncertain significance
rs768301534	8:119,936,764	G/T	—	uncertain significance
rs754991346	8:119,936,793	C/G	—	uncertain significance
rs758824253	8:119,936,817	T/C	—	uncertain significance
rs1812223482	8:119,936,820	T/A	—	likely benign
rs1307942060	8:119,936,822	G/A	—	pathogenic
rs2488045933	8:119,936,827	A/G	—	uncertain significance
rs200218935	8:119,936,836	A/G	—	uncertain significance
rs1283492737	8:119,936,854	C/G	—	uncertain significance
rs2488045999	8:119,936,857	G/A	—	uncertain significance
rs140297643	8:119,936,862	G/A	—	likely benign
rs768245778	8:119,936,873	T/C	—	uncertain significance
rs376914808	8:119,936,884	A/G	—	uncertain significance
rs1477026960	8:119,936,907	T/G	—	likely benign
rs772004669	8:119,936,910	C/T	—	likely benign
rs2488046143	8:119,936,922	C/T	—	uncertain significance
rs878963228	8:119,936,924	T/A	—	uncertain significance
rs145316984	8:119,936,933	G/A	—	uncertain significance
rs11573942	8:119,936,934	A/T	—	likely benign
rs1586952570	8:119,936,935	A/G	—	uncertain significance
rs1586952589	8:119,936,964	A/G	—	likely benign
rs373848556	8:119,936,966	T/C	—	conflicting classifications of pathogenicity
rs1284226568	8:119,936,972	G/A	—	uncertain significance
rs140782326	8:119,936,978	C/A	—	uncertain significance
rs143414212	8:119,936,979	G/A	—	conflicting classifications of pathogenicity
rs778507017	8:119,936,982	G/C	—	uncertain significance
rs1391441642	8:119,936,996	C/G	—	uncertain significance
rs2488046306	8:119,936,999	T/C	—	uncertain significance
rs370527215	8:119,937,012	C/G	—	likely benign
rs7844539	8:119,938,725	T/G	—	benign
rs558927039	8:119,938,738	A/G	—	uncertain significance
rs1378962530	8:119,938,753	A/G	—	uncertain significance
rs2488048477	8:119,938,756	T/C	—	uncertain significance
rs776225644	8:119,938,781	A/T	—	uncertain significance
rs2228568	8:119,938,782	T/C	—	benign
rs368397401	8:119,938,784	A/C	—	uncertain significance
rs2488048644	8:119,938,806	T/C	—	likely benign
rs374594601	8:119,938,821	T/A	—	uncertain significance
rs774691067	8:119,938,826	G/A	—	uncertain significance
rs767927201	8:119,938,830	T/C	—	uncertain significance
rs11573930	8:119,938,836	C/T	—	benign
rs767035135	8:119,938,841	C/T	—	uncertain significance
rs1033591517	8:119,938,845	C/T	—	likely benign
rs201393730	8:119,938,850	C/T	—	uncertain significance
rs150457771	8:119,938,851	G/T	—	uncertain significance
rs1170639210	8:119,938,897	T/G	—	uncertain significance
rs371614996	8:119,938,902	C/T	—	likely benign
rs977797503	8:119,938,919	C/G	—	uncertain significance
rs766836970	8:119,938,927	C/G	—	uncertain significance
rs376708982	8:119,938,929	G/A	—	conflicting classifications of pathogenicity
rs2488048943	8:119,938,935	T/A	—	likely benign
rs1273535537	8:119,938,937	C/T	—	uncertain significance
rs763694902	8:119,938,943	C/G	—	uncertain significance
rs2129882318	8:119,938,945	C/T	—	uncertain significance
rs750987558	8:119,938,947	C/T	—	likely benign
rs755957559	8:119,938,974	A/G	—	likely benign
rs7834745	8:119,939,859	A/G	intron variant	—
rs765716092	8:119,940,957	G/A	—	likely benign
rs369983501	8:119,940,964	G/C	—	likely benign
rs2488051549	8:119,940,970	T/C	—	likely benign
rs2488051573	8:119,940,985	C/A	—	uncertain significance
rs372458728	8:119,941,010	C/T	—	uncertain significance
rs11573923	8:119,941,011	G/A	—	benign
rs753578962	8:119,941,025	C/T	—	uncertain significance
rs146588847	8:119,941,026	G/A	—	likely benign
rs550681267	8:119,941,027	T/A	—	uncertain significance
rs2488051647	8:119,941,060	C/T	—	uncertain significance
rs1054249127	8:119,941,080	G/A	—	likely benign
rs140021481	8:119,941,086	T/C	—	likely benign
rs2488051729	8:119,941,094	G/A	—	uncertain significance
rs149778739	8:119,941,108	G/A	—	uncertain significance
rs1563689151	8:119,941,130	C/G	—	uncertain significance
rs794727494	8:119,941,136	A/C	—	uncertain significance
rs1201638030	8:119,941,157	G/A	—	pathogenic

Showing 100 of 180 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.