APOE

apolipoprotein E

Summary

The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]

Known Variants169 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs435380	19:45,407,118	G/A	regulatory region variant	—
rs72654461	19:45,407,326	G/A	regulatory region variant	—
rs72654463	19:45,407,409	C/T	regulatory region variant	—
rs446037	19:45,407,437	G/T	regulatory region variant	—
rs7259620	19:45,407,788	G/C	—	—
rs439382	19:45,408,475	A/G	upstream gene variant	—
rs449647	19:45,408,564	A/T	regulatory region variant	—
rs769446	19:45,408,628	T/C	regulatory region variant	—
rs405509	19:45,408,836	T/G	regulatory region variant	drug response
rs1246551383	19:45,409,145	G/A	—	uncertain significance
rs440446	19:45,409,167	C/G	regulatory region variant	benign
rs563571689	19:45,409,180	G/A	—	conflicting classifications of pathogenicity
rs769448	19:45,409,579	T/C	—	likely benign
rs1969812567	19:45,409,900	G/C	—	uncertain significance
rs978402858	19:45,409,903	T/C	—	likely benign
rs144354013	19:45,409,912	A/G	—	conflicting classifications of pathogenicity
rs769449	19:45,410,002	G/A	regulatory region variant	benign
rs769450	19:45,410,444	G/A	downstream gene variant	drug response
rs115299243	19:45,410,548	A/G	downstream gene variant	—
rs769451	19:45,410,911	T/G	downstream gene variant	—
rs121918392	19:45,411,034	G/A	missense variant	pathogenic
rs111833428	19:45,411,042	G/A	—	likely benign
rs150688032	19:45,411,057	G/A	—	likely benign
rs370227413	19:45,411,063	C/G	—	likely benign
rs201672011	19:45,411,064	G/A	missense variant	pathogenic
rs755434388	19:45,411,081	C/G	—	likely benign
rs2122132512	19:45,411,087	G/A	—	uncertain significance
rs756353413	19:45,411,089	A/G	—	uncertain significance
rs373020952	19:45,411,093	C/T	—	likely benign
rs2513539611	19:45,411,098	A/C	—	uncertain significance
rs121918399	19:45,411,100	C/T	missense variant	pathogenic
rs769452	19:45,411,110	T/C	missense variant	pathogenic
rs761381769	19:45,411,111	G/A	—	likely benign
rs11542029	19:45,411,121	C/A	—	uncertain significance
rs2513539697	19:45,411,136	C/T	—	likely benign
rs376607258	19:45,411,138	G/C	—	likely benign
rs752790054	19:45,411,140	G/A	—	uncertain significance
rs28931576	19:45,411,151	A/G	missense variant	pathogenic
rs2513539751	19:45,411,163	C/T	—	uncertain significance
rs370594287	19:45,411,165	G/C	—	uncertain significance
rs2513539761	19:45,411,166	G/T	—	uncertain significance
rs139948786	19:45,411,178	C/T	—	likely benign
rs781192562	19:45,411,183	C/T	—	likely benign
rs757100480	19:45,411,187	T/G	—	uncertain significance
rs12982192	19:45,411,259	T/C	downstream gene variant	—
rs748779489	19:45,411,782	G/C	—	likely benign
rs1238363607	19:45,411,786	G/T	—	uncertain significance
rs397514253	19:45,411,788	A/G	—	pathogenic
rs759134820	19:45,411,793	G/A	—	likely benign
rs767980905	19:45,411,802	C/T	—	likely benign
rs368210726	19:45,411,819	T/C	—	uncertain significance
rs371331933	19:45,411,832	A/G	—	likely benign
rs776830091	19:45,411,834	C/G	—	uncertain significance
rs1969855667	19:45,411,836	G/A	—	uncertain significance
rs577618688	19:45,411,849	A/G	—	uncertain significance
rs267605543	19:45,411,853	G/A	—	likely benign
rs11083750	19:45,411,858	C/G	missense variant	association
rs368495194	19:45,411,859	G/A	—	likely benign
rs767382895	19:45,411,863	G/A	—	uncertain significance
rs752409518	19:45,411,865	G/A	—	likely benign
rs777571029	19:45,411,874	G/A	—	likely benign
rs745552623	19:45,411,888	C/A	—	uncertain significance
rs11542033	19:45,411,889	C/G	—	likely benign
rs2513541146	19:45,411,892	G/A	—	likely benign
rs28931577	19:45,411,902	G/A	missense variant	pathogenic
rs768998148	19:45,411,907	G/T	—	likely benign
rs777291619	19:45,411,909	A/C	—	uncertain significance
rs1969859756	19:45,411,915	G/A	—	uncertain significance
rs587778876	19:45,411,917	C/A	—	not provided
rs2513541253	19:45,411,923	G/A	—	uncertain significance
rs773391883	19:45,411,934	G/A	—	likely benign
rs766493265	19:45,411,937	C/T	—	likely benign
rs1056815951	19:45,411,940	G/A	—	likely benign
rs429358	19:45,411,941	T/C	missense variant	risk factor
rs11542041	19:45,411,947	C/T	—	uncertain significance
rs573658040	19:45,411,962	C/G	—	uncertain significance
rs1267728092	19:45,411,967	C/T	—	likely benign
rs41382345	19:45,411,969	A/G	—	uncertain significance
rs1969863273	19:45,411,975	A/G	—	uncertain significance
rs1489359246	19:45,411,985	C/T	—	likely benign
rs267606664	19:45,411,987	G/A	missense variant	pathogenic
rs773479792	19:45,411,997	C/G	—	likely benign
rs587778877	19:45,412,004	C/A	—	not provided
rs28931578	19:45,412,008	G/A	missense variant	pathogenic
rs1969865204	19:45,412,009	G/T	—	likely benign
rs121918393	19:45,412,013	C/T	missense variant	pathogenic
rs200703101	19:45,412,014	G/T	missense variant	pathogenic
rs753601274	19:45,412,015	C/T	—	likely benign
rs1356159599	19:45,412,018	C/T	—	likely benign
rs387906567	19:45,412,031	C/T	missense variant	pathogenic
rs1377830202	19:45,412,037	C/A	—	uncertain significance
rs769455	19:45,412,040	C/T	missense variant	pathogenic
rs121918397	19:45,412,041	G/A	missense variant	pathogenic
rs1599953670	19:45,412,042	T/G	—	likely benign
rs121918394	19:45,412,043	A/G	missense variant	pathogenic
rs1332591068	19:45,412,047	G/C	—	likely pathogenic
rs1347476726	19:45,412,048	G/T	—	likely benign
rs267606662	19:45,412,061	G/C	missense variant	pathogenic
rs7412	19:45,412,079	C/T	missense variant	drug response
rs1465409896	19:45,412,090	G/A	—	likely benign

Showing 100 of 169 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.