APOL1

apolipoprotein L1

Summary

This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

Known Variants147 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9610467	22:36,649,574	G/A	—	benign
rs112278014	22:36,649,791	G/A	—	benign
rs13056427	22:36,649,802	C/T	—	benign
rs6000220	22:36,649,966	C/T	—	benign
rs139494181	22:36,650,004	C/T	—	likely benign
rs781603527	22:36,650,036	T/C	—	likely benign
rs117463237	22:36,650,140	A/G	—	likely benign
rs115877308	22:36,650,221	C/G	—	likely benign
rs192737055	22:36,650,812	G/T	—	likely benign
rs9610468	22:36,650,956	G/A	—	benign
rs762562953	22:36,650,978	T/C	—	likely benign
rs769299217	22:36,651,024	G/A	—	uncertain significance
rs199650512	22:36,651,030	C/T	—	uncertain significance
rs28360494	22:36,651,231	T/G	—	benign
rs136147	22:36,652,889	G/T	—	benign
rs136148	22:36,652,931	C/T	—	benign
rs141087521	22:36,653,037	C/T	—	likely benign
rs540252132	22:36,653,147	T/G	—	likely benign
rs1195884801	22:36,653,187	G/T	—	uncertain significance
rs4820224	22:36,653,275	G/A	—	benign
rs777297128	22:36,653,368	G/A	—	likely benign
rs746312873	22:36,653,369	C/A	—	uncertain significance
rs200488315	22:36,653,378	G/A	—	uncertain significance
rs1412411332	22:36,653,385	G/T	—	uncertain significance
rs766338763	22:36,653,423	G/A	—	uncertain significance
rs2517911953	22:36,653,447	G/A	—	uncertain significance
rs751050753	22:36,653,457	G/A	—	uncertain significance
rs136149	22:36,653,743	G/A	—	benign
rs9610469	22:36,653,752	G/A	—	—
rs10854688	22:36,653,854	C/G	—	—
rs12106505	22:36,655,663	A/T	regulatory region variant	—
rs113661479	22:36,656,225	G/A	intron variant	—
rs9622362	22:36,656,444	A/C	intron variant	—
rs9622363	22:36,656,555	A/G	intron variant	—
rs129423	22:36,657,329	T/C	—	benign
rs136161	22:36,657,432	G/C	intron variant	benign
rs136162	22:36,657,474	G/A	—	likely benign
rs713929	22:36,657,596	G/A	—	benign
rs136163	22:36,657,628	T/G	—	likely benign
rs201153239	22:36,657,649	T/C	—	likely benign
rs751841122	22:36,657,726	A/T	—	uncertain significance
rs112074559	22:36,657,739	C/T	—	likely benign
rs41297245	22:36,657,740	G/A	—	benign
rs2517921056	22:36,657,744	T/C	—	uncertain significance
rs749432798	22:36,657,745	C/T	—	likely benign
rs370874898	22:36,657,782	G/T	—	likely benign
rs136164	22:36,657,789	T/C	—	benign
rs4419330	22:36,658,855	T/C	intron variant	—
rs136170	22:36,660,921	C/T	—	benign
rs28697951	22:36,660,975	A/G	—	benign
rs28391521	22:36,661,061	G/A	—	benign
rs136169	22:36,661,149	A/G	—	benign
rs28480494	22:36,661,152	G/A	—	benign
rs765392266	22:36,661,188	C/T	—	likely benign
rs190240132	22:36,661,190	T/C	—	likely benign
rs374427859	22:36,661,197	G/C	—	uncertain significance
rs141898256	22:36,661,200	T/C	—	likely benign
rs780653482	22:36,661,202	A/T	—	uncertain significance
rs769135730	22:36,661,205	C/A	—	uncertain significance
rs146078613	22:36,661,216	C/T	—	uncertain significance
rs2517926534	22:36,661,241	G/C	—	uncertain significance
rs772560002	22:36,661,250	T/A	—	uncertain significance
rs760970273	22:36,661,272	C/T	—	likely benign
rs2146311370	22:36,661,279	G/A	—	uncertain significance
rs2146311415	22:36,661,299	G/C	—	uncertain significance
rs2239785	22:36,661,330	G/A	missense variant	benign
rs750232721	22:36,661,340	A/G	—	uncertain significance
rs757814781	22:36,661,342	A/T	—	uncertain significance
rs148296684	22:36,661,354	C/T	—	benign
rs879140668	22:36,661,391	A/G	—	uncertain significance
rs2146311727	22:36,661,398	C/A	—	likely benign
rs116136671	22:36,661,409	A/G	—	benign
rs149073330	22:36,661,410	T/C	—	likely benign
rs1393953606	22:36,661,411	G/T	—	uncertain significance
rs368340430	22:36,661,416	G/T	—	likely benign
rs2517927263	22:36,661,425	T/C	—	likely benign
rs150846072	22:36,661,455	C/T	—	likely benign
rs183714534	22:36,661,459	G/A	—	uncertain significance
rs1472287082	22:36,661,471	G/T	—	uncertain significance
rs2016209626	22:36,661,477	T/G	—	likely benign
rs757904186	22:36,661,529	T/C	—	uncertain significance
rs136174	22:36,661,536	C/A	—	benign
rs1603482254	22:36,661,537	G/A	—	uncertain significance
rs770867795	22:36,661,544	C/G	—	uncertain significance
rs201375679	22:36,661,545	C/T	—	likely benign
rs2517927735	22:36,661,549	A/G	—	uncertain significance
rs1435548365	22:36,661,554	C/T	—	likely benign
rs136175	22:36,661,566	G/A	missense variant	benign
rs146925617	22:36,661,573	G/A	—	uncertain significance
rs2146312171	22:36,661,580	A/G	—	uncertain significance
rs147973675	22:36,661,601	C/T	—	conflicting classifications of pathogenicity
rs752305718	22:36,661,606	G/A	—	uncertain significance
rs136176	22:36,661,646	G/A	missense variant	benign
rs554687721	22:36,661,649	A/G	—	benign
rs755406811	22:36,661,665	C/T	—	likely benign
rs73885316	22:36,661,674	C/A	—	likely benign
rs772138899	22:36,661,678	C/A	—	conflicting classifications of pathogenicity
rs142955744	22:36,661,679	T/G	—	uncertain significance
rs73403889	22:36,661,691	G/A	—	likely benign
rs138853743	22:36,661,695	T/C	—	likely benign

Showing 100 of 147 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.