SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1

Summary

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Known Variants799 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6003879	22:24,128,872	G/A	—	benign
rs6003880	22:24,128,930	C/T	—	benign
rs2073387	22:24,129,005	T/G	—	benign
rs115022311	22:24,129,112	C/T	—	likely benign
rs11704810	22:24,129,129	G/T	—	benign
rs563943196	22:24,129,173	G/A	—	likely benign
rs886057281	22:24,129,200	G/A	—	uncertain significance
rs886057282	22:24,129,208	C/T	—	uncertain significance
rs886057283	22:24,129,209	T/C	—	uncertain significance
rs11090285	22:24,129,240	T/C	—	benign
rs551328283	22:24,129,242	C/T	—	likely benign
rs886057284	22:24,129,250	A/G	—	uncertain significance
rs1374186002	22:24,129,274	C/T	—	uncertain significance
rs34276473	22:24,129,326	C/T	—	likely benign
rs372777519	22:24,129,340	C/T	—	benign
rs753903024	22:24,129,346	C/G	—	likely benign
rs2517652370	22:24,129,352	C/A	—	uncertain significance
rs1928039490	22:24,129,353	C/T	—	uncertain significance
rs1002770944	22:24,129,354	G/T	—	uncertain significance
rs2517652376	22:24,129,356	A/C	—	uncertain significance
rs367768260	22:24,129,357	A/G	missense variant	uncertain significance
rs2145951889	22:24,129,360	A/G	—	uncertain significance
rs2517652396	22:24,129,361	T/G	—	uncertain significance
rs2517652401	22:24,129,362	G/A	—	uncertain significance
rs2517652412	22:24,129,364	T/A	—	uncertain significance
rs772433022	22:24,129,366	A/T	—	uncertain significance
rs371477865	22:24,129,367	T/C	—	uncertain significance
rs1928040877	22:24,129,369	G/C	—	uncertain significance
rs1568933235	22:24,129,370	C/T	—	uncertain significance
rs747587445	22:24,129,371	G/T	—	likely benign
rs2517652477	22:24,129,372	C/G	—	uncertain significance
rs1381647379	22:24,129,374	G/T	—	likely benign
rs1928042033	22:24,129,376	G/A	—	uncertain significance
rs771334931	22:24,129,377	C/T	—	likely benign
rs2145951968	22:24,129,378	A/G	—	uncertain significance
rs2517652533	22:24,129,379	A/G	—	uncertain significance
rs2145951974	22:24,129,380	G/A	—	likely benign
rs2517652557	22:24,129,382	C/G	—	uncertain significance
rs776259216	22:24,129,383	C/T	—	likely benign
rs1247300129	22:24,129,386	C/T	—	likely benign
rs1555875308	22:24,129,387	G/A	—	conflicting classifications of pathogenicity
rs2517652568	22:24,129,389	G/A	—	likely benign
rs74315513	22:24,129,390	C/T	stop gained	pathogenic
rs2517652580	22:24,129,391	A/C	—	uncertain significance
rs2145952009	22:24,129,395	G/A	—	likely benign
rs2517652605	22:24,129,397	C/A	—	pathogenic
rs1285048687	22:24,129,398	C/T	—	likely benign
rs1379787699	22:24,129,399	G/T	—	uncertain significance
rs1928044034	22:24,129,400	T/C	—	uncertain significance
rs759056710	22:24,129,401	G/A	—	likely benign
rs2145952051	22:24,129,404	G/A	—	likely benign
rs2517652662	22:24,129,407	C/T	—	likely benign
rs1928044707	22:24,129,408	C/T	—	pathogenic
rs1220062951	22:24,129,410	G/C	—	uncertain significance
rs977028798	22:24,129,411	C/T	—	likely benign
rs2145952083	22:24,129,415	A/C	—	uncertain significance
rs2517652708	22:24,129,416	G/A	—	likely benign
rs1601382598	22:24,129,417	G/A	—	uncertain significance
rs2145952092	22:24,129,418	A/G	—	uncertain significance
rs2517652737	22:24,129,419	C/T	—	likely benign
rs1417899723	22:24,129,420	G/A	—	uncertain significance
rs1287987691	22:24,129,423	G/A	—	uncertain significance
rs1601382621	22:24,129,424	G/A	—	uncertain significance
rs769604673	22:24,129,425	C/G	—	likely benign
rs1601382640	22:24,129,426	G/A	—	uncertain significance
rs2145952118	22:24,129,427	A/C	—	uncertain significance
rs2517652791	22:24,129,428	G/A	—	likely benign
rs1928046958	22:24,129,429	T/G	—	uncertain significance
rs2145952130	22:24,129,430	T/C	—	uncertain significance
rs2517652817	22:24,129,431	C/T	—	likely benign
rs374962941	22:24,129,434	C/T	—	likely benign
rs762676176	22:24,129,435	A/C	—	uncertain significance
rs763994045	22:24,129,436	T/G	—	likely pathogenic
rs2517652837	22:24,129,438	A/G	—	uncertain significance
rs2517652847	22:24,129,440	C/G	—	uncertain significance
rs774011967	22:24,129,441	G/C	—	uncertain significance
rs1601382677	22:24,129,443	C/T	—	conflicting classifications of pathogenicity
rs761868468	22:24,129,446	C/T	—	conflicting classifications of pathogenicity
rs2145952184	22:24,129,447	G/T	—	pathogenic
rs267607072	22:24,129,448	A/T	missense variant	pathogenic
rs2517652901	22:24,129,449	G/A	—	uncertain significance
rs2145952201	22:24,129,450	G/A	—	likely pathogenic
rs2517652923	22:24,129,453	G/A	—	uncertain significance
rs1928049801	22:24,129,454	C/A	—	uncertain significance
rs1928049977	22:24,129,455	C/T	—	uncertain significance
rs369557828	22:24,129,456	C/T	—	likely benign
rs2145952222	22:24,129,457	G/A	—	likely benign
rs2145952225	22:24,129,458	G/C	—	likely benign
rs2145952229	22:24,129,459	G/A	—	likely benign
rs1192164404	22:24,129,460	G/A	—	likely benign
rs1162070583	22:24,129,461	C/T	—	uncertain significance
rs1362943635	22:24,129,463	C/T	—	likely benign
rs1420863719	22:24,129,464	G/A	—	likely benign
rs2145952262	22:24,129,465	T/G	—	likely benign
rs1382842452	22:24,129,469	C/T	—	likely benign
rs35243495	22:24,129,493	G/C	—	benign
rs529380801	22:24,129,572	G/T	—	likely benign
rs575117667	22:24,129,584	C/A	—	likely benign
rs55914016	22:24,129,795	T/C	—	benign
rs2517654407	22:24,129,823	A/G	—	uncertain significance

Showing 100 of 799 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.