SASH1

SAM and SH3 domain containing 1

Summary

This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]

Known Variants186 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9497965	6:148,521,292	C/T	intergenic variant	—
rs9497975	6:148,547,802	G/A	intergenic variant	—
rs4574664	6:148,639,909	G/T	intron variant	—
rs754192077	6:148,664,235	C/T	—	uncertain significance
rs200427643	6:148,664,282	C/G	—	uncertain significance
rs2482938409	6:148,664,283	C/G	—	uncertain significance
rs1394679827	6:148,664,306	G/C	—	uncertain significance
rs759856682	6:148,664,314	A/G	—	likely benign
rs1252103564	6:148,664,318	G/A	—	uncertain significance
rs747027375	6:148,664,351	G/C	—	uncertain significance
rs55914407	6:148,664,404	A/G	—	benign
rs6930576	6:148,704,954	G/A	intron variant	—
rs758083632	6:148,711,272	C/T	—	likely benign
rs937939084	6:148,711,273	G/A	—	uncertain significance
rs376657388	6:148,711,294	G/A	—	uncertain significance
rs1231231003	6:148,711,307	A/G	—	uncertain significance
rs772650830	6:148,711,342	G/T	—	uncertain significance
rs369830961	6:148,711,344	G/A	—	likely benign
rs200385590	6:148,711,371	A/G	—	likely benign
rs7774517	6:148,711,682	A/G	—	benign
rs10872615	6:148,761,039	G/A	—	benign
rs768183967	6:148,761,342	C/T	—	uncertain significance
rs148125308	6:148,761,357	G/A	—	uncertain significance
rs34521137	6:148,761,362	C/G	—	benign
rs1373864935	6:148,761,363	A/C	—	uncertain significance
rs2272998	6:148,761,456	G/C	—	benign
rs549750606	6:148,761,490	G/A	—	likely benign
rs9498038	6:148,761,603	C/A	—	benign
rs567588376	6:148,767,526	G/A	—	—
rs6930337	6:148,788,006	C/T	intron variant	—
rs17642099	6:148,789,370	A/G	—	benign
rs17642133	6:148,789,416	T/C	—	benign
rs17714869	6:148,789,478	T/C	—	benign
rs756474875	6:148,789,695	A/T	—	uncertain significance
rs1474707	6:148,789,933	G/C	—	benign
rs912899676	6:148,792,549	T/G	—	likely benign
rs780949544	6:148,792,591	C/A	—	uncertain significance
rs1883625	6:148,792,617	A/G	—	benign
rs2294776	6:148,792,852	T/G	—	benign
rs79532292	6:148,795,133	A/G	—	benign
rs2483803893	6:148,795,271	T/A	—	uncertain significance
rs1230623555	6:148,795,272	G/A	—	uncertain significance
rs1443408649	6:148,795,279	C/T	—	uncertain significance
rs140254763	6:148,795,280	G/C	—	likely benign
rs763520597	6:148,795,285	G/A	—	uncertain significance
rs778739745	6:148,795,320	A/G	—	uncertain significance
rs2294777	6:148,795,472	T/C	—	benign
rs3817930	6:148,808,412	G/A	—	benign
rs2294778	6:148,808,624	G/C	—	benign
rs2294779	6:148,808,631	G/T	—	benign
rs200804474	6:148,808,775	G/A	—	uncertain significance
rs781299374	6:148,808,780	T/G	—	uncertain significance
rs2483945828	6:148,808,846	T/C	—	uncertain significance
rs77522970	6:148,809,054	G/T	—	benign
rs1057793	6:148,835,416	T/C	—	benign
rs773998010	6:148,835,473	C/T	—	uncertain significance
rs773099917	6:148,835,483	G/C	—	uncertain significance
rs7739956	6:148,835,642	A/G	—	benign
rs73015038	6:148,837,749	C/T	intron variant	—
rs35078400	6:148,840,713	C/G	—	uncertain significance
rs201440091	6:148,840,720	G/C	—	likely benign
rs147468160	6:148,840,728	G/A	—	uncertain significance
rs1050414808	6:148,840,733	G/A	—	uncertain significance
rs768804300	6:148,840,747	C/T	—	likely benign
rs146881999	6:148,840,772	G/A	—	uncertain significance
rs1219552561	6:148,840,779	C/T	—	uncertain significance
rs140465347	6:148,840,851	G/C	—	uncertain significance
rs1421812471	6:148,840,898	C/T	—	uncertain significance
rs200436832	6:148,840,917	C/A	—	uncertain significance
rs138202713	6:148,840,966	G/C	—	uncertain significance
rs770363005	6:148,840,977	G/A	—	uncertain significance
rs116958992	6:148,840,980	T/C	—	benign
rs13196292	6:148,841,011	C/T	—	benign
rs149965187	6:148,841,012	G/A	—	likely benign
rs76979348	6:148,841,465	G/A	—	benign
rs373610885	6:148,841,470	G/A	—	likely benign
rs1336675960	6:148,841,473	C/T	—	uncertain significance
rs1147857	6:148,841,752	T/C	regulatory region variant	—
rs2294781	6:148,846,135	C/T	—	benign
rs138079007	6:148,846,430	A/G	—	uncertain significance
rs2484290421	6:148,846,434	G/A	—	uncertain significance
rs776169463	6:148,846,457	A/T	—	uncertain significance
rs373832720	6:148,846,459	G/A	—	likely benign
rs1382610852	6:148,848,607	G/T	—	uncertain significance
rs35089420	6:148,848,673	G/A	—	uncertain significance
rs200753984	6:148,848,675	G/A	—	likely benign
rs2110198	6:148,848,919	C/T	—	benign
rs2159965	6:148,848,996	G/A	—	benign
rs2294784	6:148,852,391	C/T	—	benign
rs150728102	6:148,852,697	G/A	—	likely benign
rs568821598	6:148,852,710	G/A	—	uncertain significance
rs1562489143	6:148,852,752	T/G	—	likely pathogenic
rs1562489156	6:148,852,758	G/A	—	likely pathogenic
rs1781524840	6:148,852,761	A/G	—	uncertain significance
rs2115402495	6:148,852,762	G/A	—	uncertain significance
rs1237876014	6:148,852,770	A/C	—	uncertain significance
rs1562489224	6:148,852,777	T/C	—	likely pathogenic
rs1781526992	6:148,852,781	T/A	—	likely pathogenic
rs1562489240	6:148,852,789	G/A	—	likely pathogenic
rs1465307	6:148,853,867	C/T	—	benign

Showing 100 of 186 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.