BMPER

BMP binding endothelial regulator

Summary

This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011]

Known Variants307 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs144748548	7:33,944,535	C/A	—	likely benign
rs114417992	7:33,944,584	G/C	—	benign
rs1783769828	7:33,944,604	T/C	—	uncertain significance
rs117405942	7:33,944,634	G/A	—	benign
rs189473686	7:33,944,667	G/A	—	benign
rs112890951	7:33,944,686	G/A	—	benign
rs560596245	7:33,944,696	G/T	—	uncertain significance
rs886062290	7:33,944,705	G/A	—	uncertain significance
rs886062291	7:33,944,707	C/T	—	uncertain significance
rs886062292	7:33,944,737	G/A	—	uncertain significance
rs113711026	7:33,944,760	A/G	—	benign
rs886062293	7:33,944,765	T/A	—	uncertain significance
rs886062294	7:33,945,118	G/A	—	uncertain significance
rs75295552	7:33,945,201	C/A	—	benign
rs577209363	7:33,945,225	G/C	—	likely benign
rs142872640	7:33,945,241	G/C	—	uncertain significance
rs371032533	7:33,945,243	C/A	—	likely benign
rs775069844	7:33,945,250	G/A	—	uncertain significance
rs2534327454	7:33,945,261	G/A	—	likely benign
rs760953708	7:33,945,271	C/A	—	uncertain significance
rs866309179	7:33,945,272	G/T	—	uncertain significance
rs753940001	7:33,945,274	C/T	—	uncertain significance
rs200969665	7:33,945,285	G/A	—	likely benign
rs1162621732	7:33,945,294	C/T	—	likely benign
rs780768347	7:33,945,304	C/T	—	likely benign
rs367821838	7:33,945,314	A/G	—	uncertain significance
rs368119843	7:33,945,331	A/G	—	uncertain significance
rs921065737	7:33,945,332	T/C	—	uncertain significance
rs886062295	7:33,945,340	G/T	—	uncertain significance
rs369009264	7:33,945,341	C/G	—	conflicting classifications of pathogenicity
rs1350356122	7:33,945,366	A/G	—	likely benign
rs75250304	7:33,945,367	G/C	—	benign
rs542450607	7:33,945,373	G/A	—	likely benign
rs78597911	7:33,945,580	C/T	—	benign
rs542452381	7:33,946,413	T/C	—	conflicting classifications of pathogenicity
rs767242515	7:33,946,414	C/T	—	likely benign
rs112068976	7:33,946,464	C/T	—	benign
rs1236390436	7:33,946,491	C/A	—	uncertain significance
rs763059996	7:33,946,493	C/T	—	uncertain significance
rs376510799	7:33,946,533	G/C	—	benign
rs57306272	7:33,976,633	C/T	—	benign
rs376011702	7:33,976,882	C/T	—	likely benign
rs144030074	7:33,976,901	A/G	—	conflicting classifications of pathogenicity
rs376317780	7:33,976,910	G/A	—	uncertain significance
rs948011563	7:33,976,913	A/G	—	uncertain significance
rs148691108	7:33,976,927	G/A	—	benign
rs142205105	7:33,976,935	C/T	—	uncertain significance
rs766925978	7:33,976,936	C/T	—	likely benign
rs199793163	7:33,976,937	G/A	—	uncertain significance
rs370292674	7:33,977,018	C/T	—	benign
rs372091719	7:33,977,019	G/A	—	likely benign
rs59317227	7:33,977,101	C/T	—	benign
rs10244318	7:33,977,150	A/G	—	benign
rs371063259	7:34,006,081	T/G	—	likely benign
rs982118740	7:34,006,093	T/C	—	uncertain significance
rs2534120900	7:34,006,104	A/G	—	likely benign
rs761287443	7:34,006,111	A/G	—	uncertain significance
rs1182409075	7:34,006,133	G/T	—	uncertain significance
rs371676663	7:34,006,142	C/T	—	uncertain significance
rs750265350	7:34,006,143	G/A	—	conflicting classifications of pathogenicity
rs754813827	7:34,006,161	A/C	—	conflicting classifications of pathogenicity
rs374945016	7:34,006,162	C/T	—	uncertain significance
rs972178058	7:34,006,167	G/A	—	likely benign
rs369435597	7:34,006,183	A/C	—	likely benign
rs12667262	7:34,006,362	G/A	—	benign
rs75415979	7:34,006,395	A/T	—	benign
rs199684961	7:34,009,928	T/C	—	conflicting classifications of pathogenicity
rs886062296	7:34,009,944	G/A	—	uncertain significance
rs10265207	7:34,009,946	T/C	—	benign
rs1554300601	7:34,009,948	T/A	—	pathogenic
rs777330363	7:34,009,953	A/G	—	uncertain significance
rs868447365	7:34,009,954	C/G	—	likely pathogenic
rs147600292	7:34,009,955	A/T	—	likely benign
rs373184533	7:34,009,957	A/G	—	uncertain significance
rs2534127377	7:34,009,975	T/C	—	uncertain significance
rs62623441	7:34,010,012	G/A	—	benign
rs751184182	7:34,010,028	C/G	—	uncertain significance
rs191957211	7:34,010,036	C/T	—	conflicting classifications of pathogenicity
rs749759930	7:34,010,043	A/G	—	likely benign
rs904659614	7:34,010,047	A/C	—	likely benign
rs1405615944	7:34,014,298	C/T	—	likely benign
rs1343036244	7:34,014,303	C/G	—	likely benign
rs375689703	7:34,014,305	G/A	—	likely benign
rs763800291	7:34,014,306	C/T	—	likely benign
rs200097821	7:34,014,325	G/A	—	uncertain significance
rs755747983	7:34,014,333	G/A	—	benign
rs2534136313	7:34,014,361	C/A	—	uncertain significance
rs2128619796	7:34,014,372	C/G	—	uncertain significance
rs1404643987	7:34,014,381	C/A	—	likely benign
rs1297910211	7:34,014,409	G/A	—	likely benign
rs776906308	7:34,014,416	T/A	—	likely benign
rs114140786	7:34,014,514	G/A	—	benign
rs80053578	7:34,085,632	C/T	—	benign
rs556688063	7:34,085,898	T/A	—	likely benign
rs757676316	7:34,085,902	T/C	—	likely benign
rs78458023	7:34,085,903	T/C	—	likely benign
rs775452388	7:34,085,908	C/T	—	likely benign
rs74734392	7:34,085,921	G/A	—	benign
rs1331701476	7:34,085,944	A/G	—	likely benign
rs746039959	7:34,085,987	C/T	—	uncertain significance

Showing 100 of 307 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.