SORL1

sortilin related receptor 1

Summary

This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]

Known Variants635 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs764240317	11:121,319,031	T/C	—	uncertain significance
rs4935774	11:121,321,754	T/G	—	—
rs1452684273	11:121,323,055	C/A	—	uncertain significance
rs774906532	11:121,323,057	G/C	—	uncertain significance
rs775717593	11:121,323,069	C/T	—	uncertain significance
rs147575757	11:121,323,072	G/C	—	uncertain significance
rs2496711790	11:121,323,080	T/G	—	uncertain significance
rs758368932	11:121,323,103	G/A	—	likely benign
rs766279573	11:121,323,108	C/T	—	uncertain significance
rs751412092	11:121,323,116	G/C	—	uncertain significance
rs755601132	11:121,323,144	T/G	—	uncertain significance
rs2496712086	11:121,323,146	C/T	—	uncertain significance
rs748784949	11:121,323,152	G/A	—	uncertain significance
rs577492989	11:121,323,173	G/T	—	uncertain significance
rs200826396	11:121,323,176	C/G	—	likely benign
rs949112777	11:121,323,177	G/C	—	uncertain significance
rs761865673	11:121,323,200	G/C	—	uncertain significance
rs556756459	11:121,323,241	G/C	—	uncertain significance
rs1279928761	11:121,323,249	G/C	—	uncertain significance
rs372705427	11:121,323,267	C/T	—	uncertain significance
rs114331262	11:121,323,277	G/A	—	benign
rs774177280	11:121,323,297	A/G	—	uncertain significance
rs1860821361	11:121,323,315	T/C	—	uncertain significance
rs752596282	11:121,323,323	C/G	—	uncertain significance
rs753485964	11:121,323,344	C/T	—	likely benign
rs1860822078	11:121,323,345	G/T	—	likely benign
rs661057	11:121,328,954	T/C	intron variant	—
rs645275	11:121,335,915	T/G	—	benign
rs763929406	11:121,340,702	T/C	—	likely benign
rs2496741210	11:121,340,722	C/T	—	likely benign
rs766916904	11:121,340,726	A/G	—	likely benign
rs982581946	11:121,340,744	T/C	—	uncertain significance
rs564006388	11:121,340,776	G/A	—	uncertain significance
rs962594365	11:121,340,781	C/T	—	likely benign
rs749389644	11:121,340,782	G/A	—	uncertain significance
rs577587443	11:121,340,813	C/T	—	uncertain significance
rs761691535	11:121,340,827	A/G	—	uncertain significance
rs7945931	11:121,341,262	G/A	intron variant	—
rs778896351	11:121,348,824	C/G	—	uncertain significance
rs1759088073	11:121,348,830	T/C	—	uncertain significance
rs745916183	11:121,348,832	C/T	—	likely benign
rs528123842	11:121,348,833	G/A	—	likely benign
rs140888526	11:121,348,842	G/A	—	uncertain significance
rs375743724	11:121,348,850	A/T	—	likely benign
rs2134793869	11:121,348,865	A/C	—	uncertain significance
rs1861309113	11:121,348,869	T/G	—	uncertain significance
rs768016148	11:121,348,916	C/T	—	likely benign
rs369018073	11:121,348,917	G/A	—	uncertain significance
rs201798962	11:121,348,939	C/T	—	uncertain significance
rs145486007	11:121,348,940	G/A	—	benign
rs369285342	11:121,348,970	C/T	—	benign
rs367629421	11:121,351,451	T/A	—	benign
rs372816962	11:121,351,455	G/A	—	benign
rs557150476	11:121,351,608	A/G	—	benign
rs78970262	11:121,351,848	T/C	—	benign
rs78051777	11:121,352,165	T/C	—	benign
rs1264588324	11:121,352,219	T/C	—	benign
rs75350621	11:121,352,242	T/C	—	benign
rs370845328	11:121,352,480	G/C	—	benign
rs1056750415	11:121,352,725	A/C	—	benign
rs11600875	11:121,356,968	C/T	intron variant	—
rs2496773145	11:121,358,726	T/G	—	likely benign
rs114887171	11:121,358,733	C/T	—	benign
rs149213223	11:121,358,755	C/T	—	likely benign
rs539768568	11:121,358,760	A/G	—	uncertain significance
rs2134811058	11:121,358,762	G/A	—	uncertain significance
rs2496773262	11:121,358,764	C/T	—	likely benign
rs1245988912	11:121,358,781	C/T	—	uncertain significance
rs769105355	11:121,358,796	A/G	—	likely benign
rs2134811128	11:121,358,807	G/C	—	uncertain significance
rs765651736	11:121,358,825	C/T	—	uncertain significance
rs553081304	11:121,358,826	G/A	—	uncertain significance
rs1861502771	11:121,358,845	A/G	—	likely benign
rs763952078	11:121,358,850	G/A	—	conflicting classifications of pathogenicity
rs148380810	11:121,358,883	G/C	—	uncertain significance
rs758101142	11:121,358,896	C/G	—	uncertain significance
rs370620624	11:121,358,910	G/A	—	likely benign
rs367583942	11:121,360,737	C/A	—	likely benign
rs767591761	11:121,360,742	G/T	—	likely benign
rs931608727	11:121,360,759	A/G	—	uncertain significance
rs2298525	11:121,361,015	G/A	intron variant	—
rs985421	11:121,362,316	G/A	intron variant	—
rs751284432	11:121,367,571	C/T	—	likely benign
rs1464131024	11:121,367,573	G/T	—	likely benign
rs201465902	11:121,367,592	A/G	—	uncertain significance
rs550680703	11:121,367,610	T/C	—	uncertain significance
rs771308799	11:121,367,616	T/C	—	uncertain significance
rs1480691710	11:121,367,621	C/T	—	pathogenic
rs12364988	11:121,367,626	T/C	synonymous variant	benign
rs117260922	11:121,367,627	G/A	missense variant	benign
rs2496788882	11:121,367,668	C/A	—	uncertain significance
rs767203396	11:121,367,678	C/T	—	uncertain significance
rs2496788972	11:121,367,702	G/A	—	uncertain significance
rs372363423	11:121,367,726	C/T	—	uncertain significance
rs780280710	11:121,367,739	T/G	—	uncertain significance
rs668387	11:121,367,921	C/G	—	—
rs689021	11:121,371,120	G/A	intron variant	—
rs4598682	11:121,375,951	A/G	intron variant	—
rs641120	11:121,380,965	G/A	intron variant	—
rs1432401934	11:121,383,696	T/A	—	likely benign

Showing 100 of 635 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.