TNFRSF11A

TNF receptor superfamily member 11a

Summary

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]

Known Variants542 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886054081	18:59,992,537	G/A	—	uncertain significance
rs7238731	18:59,992,547	G/A	—	likely benign
rs1273385769	18:59,992,564	G/T	—	uncertain significance
rs1805033	18:59,992,577	T/C	—	likely benign
rs1221460027	18:59,992,586	A/G	—	uncertain significance
rs2513223439	18:59,992,587	T/C	—	uncertain significance
rs35589394	18:59,992,591	C/G	—	benign
rs1293779505	18:59,992,593	C/G	—	uncertain significance
rs757543096	18:59,992,599	C/T	—	uncertain significance
rs1008902580	18:59,992,601	C/G	—	uncertain significance
rs1405874976	18:59,992,602	G/A	—	uncertain significance
rs2513223622	18:59,992,605	G/A	—	uncertain significance
rs2513223640	18:59,992,606	G/C	—	likely benign
rs2046055826	18:59,992,609	C/G	—	likely benign
rs886054082	18:59,992,614	C/T	—	uncertain significance
rs369418441	18:59,992,618	G/C	—	conflicting classifications of pathogenicity
rs781379689	18:59,992,622	G/A	—	uncertain significance
rs2513223820	18:59,992,624	G/C	—	likely benign
rs1357947854	18:59,992,629	T/C	—	uncertain significance
rs2145223249	18:59,992,631	C/T	—	likely benign
rs2046056803	18:59,992,636	C/G	—	likely benign
rs1198435270	18:59,992,637	T/C	—	uncertain significance
rs2145223302	18:59,992,639	C/A	—	pathogenic
rs1198549517	18:59,992,641	C/T	—	uncertain significance
rs2513224014	18:59,992,644	T/G	—	uncertain significance
rs2046057171	18:59,992,646	C/T	—	uncertain significance
rs886054083	18:59,992,653	G/A	—	uncertain significance
rs1270080931	18:59,992,664	A/G	—	uncertain significance
rs146553439	18:59,992,665	G/A	—	likely benign
rs1355622513	18:59,992,669	C/A	—	likely benign
rs1755304122	18:59,992,670	G/T	—	likely benign
rs2513224278	18:59,992,676	G/T	—	likely benign
rs1412778165	18:59,992,677	C/T	—	likely benign
rs1401771436	18:59,992,678	C/A	—	uncertain significance
rs34005112	18:59,992,737	G/A	regulatory region variant	—
rs181164852	18:59,996,165	A/C	regulatory region variant	—
rs77048444	18:60,003,858	G/A	—	—
rs7239261	18:60,005,046	A/T	—	—
rs8086340	18:60,006,978	C/G	regulatory region variant	—
rs12956925	18:60,013,640	G/A	intron variant	—
rs11152342	18:60,015,207	G/C	—	benign
rs748514888	18:60,015,383	C/G	—	uncertain significance
rs772511916	18:60,015,393	C/A	—	likely benign
rs2046413089	18:60,015,401	G/A	—	uncertain significance
rs760337456	18:60,015,415	C/A	—	likely benign
rs765830728	18:60,015,416	G/A	—	conflicting classifications of pathogenicity
rs373535227	18:60,015,419	C/T	—	uncertain significance
rs752545698	18:60,015,420	C/G	—	uncertain significance
rs763808780	18:60,015,423	C/T	—	uncertain significance
rs750673708	18:60,015,424	A/G	—	likely benign
rs12721429	18:60,015,427	T/C	—	likely benign
rs1444245437	18:60,015,429	C/G	—	uncertain significance
rs780044422	18:60,015,434	G/A	—	uncertain significance
rs2513285105	18:60,015,439	G/C	—	uncertain significance
rs149317524	18:60,015,446	G/A	—	conflicting classifications of pathogenicity
rs1024921582	18:60,015,449	C/T	—	uncertain significance
rs961482049	18:60,015,451	T/C	—	likely benign
rs199863919	18:60,015,458	C/T	—	uncertain significance
rs779581026	18:60,015,459	G/A	—	uncertain significance
rs748602775	18:60,015,460	G/C	—	likely benign
rs2513285218	18:60,015,462	G/A	—	uncertain significance
rs2145289453	18:60,015,470	A/G	—	uncertain significance
rs2145289462	18:60,015,472	A/C	—	likely pathogenic
rs121908659	18:60,015,482	G/C	missense variant	pathogenic
rs1403684699	18:60,015,486	C/T	—	uncertain significance
rs1358117131	18:60,015,490	T/G	—	uncertain significance
rs3826618	18:60,015,542	T/C	—	benign
rs3826619	18:60,015,750	G/A	—	benign
rs2513289136	18:60,017,026	T/C	—	likely benign
rs970466947	18:60,017,029	C/G	—	likely benign
rs753920062	18:60,017,030	C/G	—	likely benign
rs758952741	18:60,017,049	G/T	—	uncertain significance
rs1237618298	18:60,017,061	T/A	—	likely benign
rs1329983213	18:60,017,068	A/G	—	uncertain significance
rs2145294776	18:60,017,081	A/G	—	uncertain significance
rs1269204952	18:60,017,083	A/G	—	uncertain significance
rs959117011	18:60,017,089	T/C	—	uncertain significance
rs1461647305	18:60,017,102	G/A	—	uncertain significance
rs572468327	18:60,017,105	C/T	—	uncertain significance
rs780909910	18:60,017,106	G/A	—	likely benign
rs2513289635	18:60,017,115	C/T	—	likely benign
rs1410584244	18:60,017,118	G/A	—	likely benign
rs2046440702	18:60,017,126	G/A	—	pathogenic
rs2513289717	18:60,017,127	G/T	—	uncertain significance
rs1568480073	18:60,017,153	A/G	—	uncertain significance
rs2145295176	18:60,017,155	A/G	—	uncertain significance
rs541301256	18:60,017,178	C/T	—	likely benign
rs759786368	18:60,017,179	G/A	—	likely benign
rs765459735	18:60,017,181	C/T	—	likely benign
rs1363211997	18:60,017,183	T/C	—	likely benign
rs182793661	18:60,018,360	C/T	intron variant	—
rs3826620	18:60,021,504	T/G	—	benign
rs1909077300	18:60,021,606	G/A	—	likely benign
rs2511558172	18:60,021,607	T/C	—	likely benign
rs781370321	18:60,021,610	C/G	—	likely benign
rs371545302	18:60,021,619	C/T	—	likely benign
rs761709562	18:60,021,620	G/A	—	conflicting classifications of pathogenicity
rs748789814	18:60,021,627	A/G	—	uncertain significance
rs1259170356	18:60,021,634	G/C	—	likely benign
rs1427571409	18:60,021,635	G/A	—	uncertain significance

Showing 100 of 542 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.