SBF2

SET binding factor 2

Summary

This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]

Known Variants1,465 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs376521838	11:9,800,279	C/T	—	uncertain significance
rs360126	11:9,800,346	T/G	—	benign
rs1045634	11:9,800,450	C/T	—	benign
rs929359339	11:9,800,470	A/G	—	uncertain significance
rs562275980	11:9,800,524	G/A	—	uncertain significance
rs531522907	11:9,800,526	G/T	—	uncertain significance
rs59613534	11:9,800,552	T/C	—	benign
rs997066238	11:9,800,560	A/G	—	uncertain significance
rs60154961	11:9,800,566	A/G	—	benign
rs10118	11:9,800,601	G/A	—	benign
rs360125	11:9,800,650	T/G	—	uncertain significance
rs886048774	11:9,800,710	C/T	—	uncertain significance
rs3751001	11:9,800,821	T/C	—	benign
rs182391972	11:9,800,874	C/T	—	likely benign
rs144512459	11:9,801,002	G/A	—	uncertain significance
rs886048775	11:9,801,083	A/G	—	uncertain significance
rs886048776	11:9,801,090	C/T	—	uncertain significance
rs1239478451	11:9,801,234	A/T	—	uncertain significance
rs886048777	11:9,801,235	C/T	—	uncertain significance
rs573284772	11:9,801,334	A/G	—	uncertain significance
rs776490076	11:9,801,357	C/G	—	uncertain significance
rs3829252	11:9,801,451	G/A	—	benign
rs148002177	11:9,801,485	C/T	—	uncertain significance
rs192282549	11:9,801,518	T/A	—	uncertain significance
rs985803879	11:9,801,547	A/G	—	uncertain significance
rs533676532	11:9,801,590	C/G	—	uncertain significance
rs905556733	11:9,801,660	T/C	—	uncertain significance
rs114604750	11:9,801,674	G/A	—	benign
rs192542785	11:9,801,788	T/G	—	likely benign
rs1590064987	11:9,801,811	G/A	—	uncertain significance
rs144513995	11:9,801,853	C/T	—	likely benign
rs184117822	11:9,801,887	C/G	—	uncertain significance
rs41275194	11:9,801,914	A/G	—	likely benign
rs3751000	11:9,801,925	T/G	—	benign
rs1057523279	11:9,801,945	G/C	—	likely benign
rs770446132	11:9,801,946	C/T	—	uncertain significance
rs2494466348	11:9,801,968	G/T	—	likely benign
rs1048725630	11:9,801,969	G/A	—	uncertain significance
rs2494466421	11:9,801,981	C/T	—	uncertain significance
rs376788960	11:9,801,989	G/T	—	likely benign
rs2494466500	11:9,801,993	T/C	—	uncertain significance
rs886048778	11:9,802,012	C/T	—	uncertain significance
rs763965438	11:9,802,017	T/C	—	uncertain significance
rs753527830	11:9,802,020	C/T	—	uncertain significance
rs779051883	11:9,802,022	A/G	—	likely benign
rs750660963	11:9,802,030	C/T	—	uncertain significance
rs149571145	11:9,802,031	G/A	—	likely benign
rs146064484	11:9,802,032	C/T	—	uncertain significance
rs1353568885	11:9,802,043	C/T	—	likely benign
rs1851934295	11:9,802,045	C/T	—	uncertain significance
rs373457270	11:9,802,046	A/G	—	likely benign
rs369992460	11:9,802,047	C/T	—	uncertain significance
rs770176461	11:9,802,066	A/G	—	likely benign
rs773935983	11:9,802,068	A/G	—	likely benign
rs1223447818	11:9,802,076	A/G	—	likely benign
rs745519807	11:9,802,077	T/C	—	likely benign
rs202053502	11:9,802,079	A/G	—	likely benign
rs774923587	11:9,802,081	A/G	—	likely benign
rs371286693	11:9,802,123	G/A	—	likely benign
rs360124	11:9,802,228	C/G	—	benign
rs116155110	11:9,802,913	C/A	—	likely benign
rs576700321	11:9,802,945	G/A	—	likely benign
rs3763862	11:9,802,952	C/A	—	benign
rs1223311146	11:9,803,044	A/G	—	likely benign
rs948210964	11:9,803,046	C/G	—	likely benign
rs886042830	11:9,803,052	A/C	—	pathogenic
rs1852005955	11:9,803,065	C/A	—	uncertain significance
rs1852006110	11:9,803,067	T/G	—	uncertain significance
rs1590068012	11:9,803,068	T/C	—	uncertain significance
rs1852006389	11:9,803,070	T/C	—	uncertain significance
rs755264093	11:9,803,095	T/C	—	uncertain significance
rs1852007851	11:9,803,096	G/A	—	likely benign
rs2494472577	11:9,803,105	A/G	—	likely benign
rs745534248	11:9,803,106	G/A	—	uncertain significance
rs1852008750	11:9,803,107	C/T	—	uncertain significance
rs1554897834	11:9,803,130	G/A	—	uncertain significance
rs2133841818	11:9,803,134	G/A	—	likely benign
rs746542104	11:9,803,140	T/C	—	uncertain significance
rs776497318	11:9,803,151	C/T	—	uncertain significance
rs185926762	11:9,803,175	T/C	—	uncertain significance
rs574665066	11:9,803,181	C/T	—	uncertain significance
rs938347502	11:9,803,182	G/A	—	uncertain significance
rs2494473164	11:9,803,195	A/G	—	likely benign
rs755073278	11:9,803,198	G/A	—	likely benign
rs117688622	11:9,803,394	T/C	—	benign
rs35103525	11:9,805,846	A/G	—	likely benign
rs577375809	11:9,805,880	T/C	—	likely benign
rs1025268036	11:9,805,885	T/G	—	likely benign
rs539959164	11:9,805,889	G/C	—	likely benign
rs1057521682	11:9,805,891	G/A	—	likely benign
rs2494486428	11:9,805,896	A/G	—	uncertain significance
rs1057521006	11:9,805,907	T/C	—	likely benign
rs886048779	11:9,805,921	C/T	—	uncertain significance
rs762887256	11:9,805,926	C/G	—	uncertain significance
rs770839463	11:9,805,929	C/T	—	uncertain significance
rs138850562	11:9,805,931	G/A	—	likely benign
rs1051248230	11:9,805,932	G/A	—	uncertain significance
rs774505575	11:9,805,940	A/C	—	likely benign
rs1852232500	11:9,805,959	C/T	—	uncertain significance
rs1064793771	11:9,805,962	—	—	pathogenic

Showing 100 of 1,465 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.