RORB

RAR related orphan receptor B

Summary

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]

Known Variants325 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2117998071	9:77,112,894	T/G	—	pathogenic
rs2490005867	9:77,112,895	G/C	—	pathogenic
rs2117998086	9:77,112,897	G/C	—	uncertain significance
rs1255360497	9:77,112,905	C/T	—	conflicting classifications of pathogenicity
rs2490005901	9:77,112,914	G/C	—	likely benign
rs113780851	9:77,112,919	C/T	—	benign
rs10491929	9:77,137,941	T/C	intron variant	—
rs7867494	9:77,144,200	A/T	—	—
rs13289812	9:77,147,709	T/A	—	—
rs7042950	9:77,149,837	A/C	—	—
rs717299	9:77,185,933	A/G	regulatory region variant	—
rs978010	9:77,190,380	T/C	intron variant	—
rs62554056	9:77,200,036	T/G	intron variant	—
rs565363636	9:77,205,046	C/T	—	—
rs62569143	9:77,230,223	G/A	intron variant	—
rs1360780761	9:77,230,510	G/A	—	likely benign
rs1587393981	9:77,245,191	C/T	—	likely benign
rs1587393982	9:77,245,197	G/A	—	likely pathogenic
rs1240476123	9:77,245,206	G/C	—	uncertain significance
rs2489556699	9:77,245,210	T/G	—	uncertain significance
rs2489556707	9:77,245,216	C/T	—	uncertain significance
rs1280656682	9:77,245,217	A/C	—	likely benign
rs375934653	9:77,245,232	C/T	—	likely benign
rs2489556728	9:77,245,233	G/A	—	uncertain significance
rs2118414370	9:77,245,245	G/A	—	uncertain significance
rs2489556742	9:77,245,246	G/T	—	uncertain significance
rs111352979	9:77,245,256	C/T	—	likely benign
rs1182545971	9:77,245,257	G/A	—	conflicting classifications of pathogenicity
rs2489556787	9:77,245,259	A/C	—	likely benign
rs41307459	9:77,245,265	C/T	—	likely benign
rs1471102306	9:77,245,271	T/G	—	uncertain significance
rs558999142	9:77,245,286	A/T	—	uncertain significance
rs770032972	9:77,245,293	T/G	—	benign
rs1306475037	9:77,245,297	A/G	—	likely benign
rs369568665	9:77,245,300	C/T	—	likely benign
rs2118414604	9:77,245,301	A/G	—	likely benign
rs565266096	9:77,245,349	G/A	—	—
rs903619100	9:77,248,403	G/T	—	uncertain significance
rs3750420	9:77,249,382	C/A	—	—
rs374318480	9:77,249,531	C/G	—	likely benign
rs1823673111	9:77,249,535	T/G	—	likely benign
rs752499152	9:77,249,537	T/G	—	likely benign
rs1823673206	9:77,249,538	T/G	—	likely benign
rs2118433023	9:77,249,546	G/A	—	pathogenic
rs2489566697	9:77,249,552	C/A	—	uncertain significance
rs2489566711	9:77,249,560	G/A	—	likely pathogenic
rs2118433051	9:77,249,561	G/C	—	uncertain significance
rs2489566730	9:77,249,566	A/G	—	uncertain significance
rs2118433101	9:77,249,575	A/G	—	uncertain significance
rs1823673568	9:77,249,576	T/C	—	likely benign
rs1301662336	9:77,249,579	T/C	—	likely benign
rs749391599	9:77,249,585	T/C	—	likely benign
rs2118433165	9:77,249,590	G/T	—	conflicting classifications of pathogenicity
rs2489566857	9:77,249,597	G/T	—	uncertain significance
rs1823673881	9:77,249,598	C/A	—	uncertain significance
rs2489566873	9:77,249,614	T/C	—	likely pathogenic
rs779534868	9:77,249,623	C/T	—	conflicting classifications of pathogenicity
rs2489566905	9:77,249,627	C/G	—	uncertain significance
rs2118433287	9:77,249,629	G/A	—	uncertain significance
rs2489566956	9:77,249,646	T/A	—	likely pathogenic
rs2118433369	9:77,249,648	C/A	—	likely pathogenic
rs1563959514	9:77,249,649	C/T	—	pathogenic
rs756765022	9:77,249,650	G/T	—	uncertain significance
rs111879886	9:77,249,654	G/A	—	likely benign
rs2118433425	9:77,249,655	C/T	—	pathogenic
rs869312971	9:77,249,671	T/C	missense variant	pathogenic
rs772732143	9:77,249,672	A/G	—	benign
rs1823675102	9:77,249,685	G/A	—	uncertain significance
rs2489567049	9:77,249,693	G/C	—	uncertain significance
rs1313626498	9:77,257,317	C/G	—	likely benign
rs748861722	9:77,257,319	C/T	—	likely benign
rs2118462025	9:77,257,324	A/G	—	uncertain significance
rs1563961945	9:77,257,325	C/A	—	likely benign
rs1320996639	9:77,257,337	G/T	—	uncertain significance
rs2118462076	9:77,257,341	G/A	—	uncertain significance
rs2118462083	9:77,257,342	G/A	—	uncertain significance
rs200437190	9:77,257,343	G/A	—	benign
rs2273975	9:77,257,346	G/A	—	benign
rs772141683	9:77,257,352	C/A	—	likely benign
rs2118462172	9:77,257,366	A/T	—	uncertain significance
rs1257697149	9:77,257,377	G/A	—	uncertain significance
rs2489583237	9:77,257,380	G/T	—	likely pathogenic
rs2118462242	9:77,257,385	G/A	—	likely benign
rs2489583296	9:77,257,398	C/T	—	pathogenic
rs1420169577	9:77,257,401	C/T	—	uncertain significance
rs1419404812	9:77,257,406	G/T	—	likely benign
rs920287935	9:77,257,414	A/G	—	uncertain significance
rs202240086	9:77,257,417	G/A	—	conflicting classifications of pathogenicity
rs1413035716	9:77,257,421	G/A	—	likely benign
rs772190881	9:77,257,423	A/G	—	uncertain significance
rs1164566126	9:77,257,424	G/C	—	uncertain significance
rs2489583412	9:77,257,425	C/A	—	uncertain significance
rs370887256	9:77,257,428	A/T	—	uncertain significance
rs1391882566	9:77,257,431	G/A	—	uncertain significance
rs2489583449	9:77,257,432	G/T	—	uncertain significance
rs12115740	9:77,257,448	T/C	—	likely benign
rs2489583521	9:77,257,451	C/T	—	likely benign
rs2489583537	9:77,257,454	G/A	—	likely benign
rs1587401877	9:77,257,456	T/G	—	uncertain significance
rs770503468	9:77,257,468	G/A	—	uncertain significance

Showing 100 of 325 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.