BAZ1B

bromodomain adjacent to zinc finger domain 1B

Summary

This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

Known Variants131 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2240466	7:72,856,269	G/A	intron variant	—
rs1178979	7:72,856,430	T/C	intron variant	—
rs940869911	7:72,856,546	C/T	—	uncertain significance
rs375207459	7:72,856,550	G/A	—	likely benign
rs2484752416	7:72,856,576	T/C	—	uncertain significance
rs144397980	7:72,856,634	T/C	—	likely benign
rs1178978	7:72,856,676	C/T	—	benign
rs1170325786	7:72,856,685	C/T	—	likely benign
rs782416475	7:72,856,797	G/A	—	uncertain significance
rs781968138	7:72,856,834	G/A	—	uncertain significance
rs782319482	7:72,856,836	G/A	—	uncertain significance
rs553146938	7:72,857,048	C/G	—	likely benign
rs1178977	7:72,857,049	A/G	splice region variant	—
rs140665563	7:72,857,084	G/A	—	likely benign
rs782210877	7:72,857,112	T/C	—	uncertain significance
rs1554565480	7:72,857,114	C/T	—	likely benign
rs150115317	7:72,857,130	C/T	—	likely benign
rs145782828	7:72,857,156	C/T	—	likely benign
rs782179436	7:72,857,167	A/C	—	likely benign
rs782423608	7:72,858,340	C/T	—	uncertain significance
rs782367420	7:72,858,349	C/T	—	uncertain significance
rs1365810559	7:72,858,368	G/A	—	likely benign
rs781799964	7:72,858,394	G/A	—	uncertain significance
rs149643730	7:72,858,400	C/G	—	uncertain significance
rs1266688725	7:72,858,418	G/A	—	uncertain significance
rs111248560	7:72,858,901	T/C	intron variant	—
rs117624871	7:72,863,164	T/C	regulatory region variant	—
rs13231516	7:72,863,249	T/G	regulatory region variant	—
rs2484772649	7:72,863,873	T/C	—	uncertain significance
rs369786974	7:72,863,879	G/A	—	uncertain significance
rs372634828	7:72,863,887	C/T	—	uncertain significance
rs909763054	7:72,863,939	C/T	—	uncertain significance
rs184126078	7:72,864,025	G/A	—	likely benign
rs714052	7:72,864,869	A/G	intron variant	—
rs2484776431	7:72,865,186	G/A	—	uncertain significance
rs2484776437	7:72,865,187	A/T	—	uncertain significance
rs1023530227	7:72,865,315	C/A	—	uncertain significance
rs141412243	7:72,873,872	T/C	—	likely benign
rs940267714	7:72,873,900	A/G	—	uncertain significance
rs782136256	7:72,873,910	T/A	—	uncertain significance
rs1788324781	7:72,873,936	T/C	—	uncertain significance
rs781987381	7:72,873,939	C/T	—	uncertain significance
rs369382171	7:72,873,971	G/A	—	likely benign
rs11972595	7:72,876,445	C/T	intron variant	—
rs782660606	7:72,877,257	C/A	—	uncertain significance
rs2484807987	7:72,877,285	T/C	—	uncertain significance
rs148154253	7:72,877,419	T/C	—	uncertain significance
rs781976028	7:72,879,761	C/T	—	likely benign
rs1554571044	7:72,879,768	C/A	—	not provided
rs1554571048	7:72,879,814	G/A	—	uncertain significance
rs779930627	7:72,879,831	C/G	—	uncertain significance
rs139629209	7:72,880,650	G/A	—	likely benign
rs782172617	7:72,880,651	T/C	—	uncertain significance
rs1788582814	7:72,880,674	G/A	—	uncertain significance
rs782565020	7:72,880,694	G/T	—	uncertain significance
rs782293251	7:72,880,695	T/C	—	uncertain significance
rs1554571166	7:72,880,706	A/C	—	uncertain significance
rs1554571168	7:72,880,730	A/C	—	uncertain significance
rs71556715	7:72,881,807	C/T	intron variant	—
rs149960016	7:72,883,870	C/A	—	uncertain significance
rs782386847	7:72,883,884	G/C	—	uncertain significance
rs145043036	7:72,883,898	G/A	—	benign
rs1788719588	7:72,883,907	G/C	—	uncertain significance
rs1788719694	7:72,883,909	T/C	—	uncertain significance
rs782450676	7:72,883,953	T/C	—	likely benign
rs782711251	7:72,883,963	T/C	—	uncertain significance
rs60202902	7:72,890,476	G/C	intron variant	—
rs2484850064	7:72,891,320	A/T	—	uncertain significance
rs377753487	7:72,891,505	C/G	—	likely benign
rs182094044	7:72,891,568	C/T	—	likely benign
rs201259773	7:72,891,569	G/A	—	uncertain significance
rs147123661	7:72,891,589	G/A	—	likely benign
rs186732366	7:72,891,613	A/T	—	uncertain significance
rs1441532708	7:72,891,631	C/G	—	uncertain significance
rs2484851278	7:72,891,654	T/C	—	uncertain significance
rs201444489	7:72,891,657	C/T	—	uncertain significance
rs1554572970	7:72,891,712	C/T	—	likely benign
rs2074754	7:72,891,754	C/T	—	benign
rs138938790	7:72,891,799	T/C	—	benign
rs782414971	7:72,891,830	A/G	—	uncertain significance
rs952579937	7:72,891,847	A/G	—	likely benign
rs147030399	7:72,891,883	G/T	—	likely benign
rs781857356	7:72,891,943	G/A	—	likely benign
rs374255846	7:72,891,976	C/T	—	likely benign
rs2484852549	7:72,892,058	T/C	—	uncertain significance
rs202145637	7:72,892,237	C/T	—	likely benign
rs782191320	7:72,892,426	C/A	—	benign
rs2484853816	7:72,892,440	T/A	—	uncertain significance
rs200548390	7:72,892,517	T/C	—	likely benign
rs782432522	7:72,892,521	G/A	—	uncertain significance
rs184745405	7:72,892,601	T/A	—	uncertain significance
rs1554573188	7:72,892,620	C/T	—	uncertain significance
rs2484854643	7:72,892,635	T/C	—	uncertain significance
rs947523996	7:72,892,686	T/C	—	likely benign
rs1789073093	7:72,892,689	C/T	—	uncertain significance
rs372347737	7:72,892,768	G/A	—	likely benign
rs782170768	7:72,892,788	T/G	—	uncertain significance
rs2484855359	7:72,892,790	G/A	—	uncertain significance
rs888500478	7:72,892,792	A/C	—	uncertain significance
rs961205230	7:72,892,818	T/C	—	uncertain significance

Showing 100 of 131 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.