ESRRB

estrogen related receptor beta

Summary

This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008]

Known Variants236 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4903399	14:76,775,202	C/T	upstream gene variant	—
rs2360997	14:76,812,491	G/C	downstream gene variant	—
rs113462353	14:76,815,458	G/T	regulatory region variant	—
rs111446027	14:76,837,692	G/A	—	uncertain significance
rs79948698	14:76,837,737	G/A	—	uncertain significance
rs556338868	14:76,837,761	A/G	—	uncertain significance
rs143251786	14:76,837,769	C/A	—	uncertain significance
rs181925962	14:76,837,825	C/T	—	uncertain significance
rs569344628	14:76,837,850	A/G	—	uncertain significance
rs541720695	14:76,837,870	T/C	—	uncertain significance
rs7157192	14:76,866,960	G/A	intron variant	—
rs6574293	14:76,870,600	A/C	—	—
rs886050804	14:76,870,757	T/C	—	uncertain significance
rs1886083225	14:76,870,762	G/A	—	uncertain significance
rs953298160	14:76,870,799	T/C	—	uncertain significance
rs10132091	14:76,870,818	T/C	upstream gene variant	—
rs138222274	14:76,905,379	T/C	—	likely benign
rs375317408	14:76,905,666	C/T	—	likely benign
rs370031835	14:76,905,699	G/A	—	uncertain significance
rs1141580	14:76,905,708	C/A	—	uncertain significance
rs143477571	14:76,905,712	A/G	—	benign
rs1887817856	14:76,905,771	G/A	—	likely benign
rs35544003	14:76,905,777	C/A	—	benign
rs781612689	14:76,905,810	G/A	—	conflicting classifications of pathogenicity
rs775825368	14:76,905,817	G/A	—	uncertain significance
rs771730157	14:76,905,823	G/A	—	uncertain significance
rs61744548	14:76,905,837	G/C	—	likely benign
rs61760172	14:76,905,839	C/T	—	conflicting classifications of pathogenicity
rs1689249489	14:76,905,854	C/T	—	uncertain significance
rs752511322	14:76,905,858	C/T	—	likely benign
rs373173218	14:76,905,859	G/A	—	uncertain significance
rs764336526	14:76,905,862	C/A	—	uncertain significance
rs1393144994	14:76,905,870	G/A	—	likely benign
rs1887826180	14:76,905,893	G/A	—	uncertain significance
rs559643813	14:76,905,911	G/A	—	uncertain significance
rs1477346091	14:76,905,925	G/A	—	uncertain significance
rs528723972	14:76,905,935	C/T	—	uncertain significance
rs371102435	14:76,905,939	C/T	—	likely benign
rs771967770	14:76,905,940	G/C	—	uncertain significance
rs1555397494	14:76,905,945	C/A	—	likely benign
rs775448717	14:76,905,955	T/G	—	uncertain significance
rs571434756	14:76,905,973	T/C	—	uncertain significance
rs1887834586	14:76,906,009	G/T	—	uncertain significance
rs190465039	14:76,906,011	G/A	—	likely benign
rs121909110	14:76,906,025	C/T	missense variant	pathogenic
rs141586518	14:76,906,047	G/A	—	conflicting classifications of pathogenicity
rs2503739289	14:76,906,050	C/T	—	likely benign
rs727503040	14:76,906,097	C/T	—	likely benign
rs876657808	14:76,906,098	G/A	—	uncertain significance
rs45507197	14:76,906,149	T/C	—	benign
rs12432875	14:76,906,157	T/C	—	benign
rs45511205	14:76,906,193	T/C	—	benign
rs11846902	14:76,928,625	G/A	—	benign
rs141826409	14:76,928,639	C/T	—	likely benign
rs58807616	14:76,928,674	A/G	—	benign
rs11846937	14:76,928,730	A/G	—	benign
rs10137295	14:76,928,772	A/G	—	benign
rs115124424	14:76,928,773	C/T	—	likely benign
rs57898283	14:76,928,776	G/A	—	benign
rs945918858	14:76,928,876	G/A	—	likely benign
rs886050805	14:76,928,907	C/T	—	uncertain significance
rs553712774	14:76,928,909	C/T	—	uncertain significance
rs778645048	14:76,928,910	G/A	—	likely benign
rs370878277	14:76,928,919	C/T	—	likely benign
rs1064439	14:76,928,925	C/A	—	pathogenic
rs759494353	14:76,928,939	G/A	—	uncertain significance
rs1414566395	14:76,928,944	C/T	—	uncertain significance
rs1368040979	14:76,928,960	C/T	—	uncertain significance
rs2503830577	14:76,928,963	G/A	—	uncertain significance
rs576940797	14:76,928,965	C/T	—	uncertain significance
rs763549223	14:76,928,966	G/A	—	uncertain significance
rs2503830910	14:76,928,985	A/G	—	uncertain significance
rs1555342141	14:76,928,989	G/A	—	pathogenic
rs765906060	14:76,929,019	C/T	—	conflicting classifications of pathogenicity
rs60031556	14:76,929,025	G/A	—	benign
rs138968289	14:76,929,035	G/A	—	likely benign
rs373306461	14:76,929,049	G/C	—	likely benign
rs774884207	14:76,948,350	C/A	—	likely benign
rs753495127	14:76,948,355	A/G	—	uncertain significance
rs138510486	14:76,948,364	C/T	—	conflicting classifications of pathogenicity
rs2140030880	14:76,948,379	C/T	—	uncertain significance
rs752185665	14:76,948,380	G/A	—	uncertain significance
rs1060499794	14:76,948,389	G/A	missense variant	pathogenic
rs758354881	14:76,948,402	G/A	—	likely benign
rs201481591	14:76,948,404	G/A	—	uncertain significance
rs370122804	14:76,948,406	C/T	—	uncertain significance
rs201691455	14:76,948,407	G/A	—	uncertain significance
rs373006116	14:76,948,435	G/T	—	likely benign
rs886050806	14:76,948,440	T/C	—	uncertain significance
rs377536301	14:76,948,465	G/A	—	conflicting classifications of pathogenicity
rs2503913559	14:76,948,470	G/A	—	likely pathogenic
rs764824044	14:76,948,482	G/A	—	likely benign
rs1444635768	14:76,948,486	T/C	—	likely benign
rs1323210843	14:76,948,488	C/T	—	likely benign
rs10134248	14:76,948,862	T/C	—	benign
rs534216019	14:76,948,931	G/A	—	conflicting classifications of pathogenicity
rs370195063	14:76,948,978	G/A	—	likely benign
rs773887736	14:76,948,990	T/G	—	likely pathogenic
rs149642201	14:76,948,994	A/G	—	uncertain significance
rs1382179957	14:76,949,004	C/G	—	uncertain significance

Showing 100 of 236 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.