CETP

cholesteryl ester transfer protein

Summary

The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

Known Variants262 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs183130	16:56,991,363	C/T	upstream gene variant	association
rs821840	16:56,993,886	A/G	upstream gene variant	—
rs12447924	16:56,994,192	C/T	upstream gene variant	—
rs17231506	16:56,994,528	C/G	—	—
rs4783961	16:56,994,894	G/A	upstream gene variant	—
rs1800775	16:56,995,236	C/A	upstream gene variant	—
rs17231520	16:56,995,827	G/A	downstream gene variant	benign
rs34119551	16:56,995,908	T/A	—	likely benign
rs991188482	16:56,995,914	C/T	—	uncertain significance
rs2543633239	16:56,995,934	G/T	—	uncertain significance
rs34065661	16:56,995,935	C/G	missense variant	benign
rs5884	16:56,995,957	C/A	—	likely benign
rs574035014	16:56,995,959	C/T	—	uncertain significance
rs201234837	16:56,995,964	G/A	—	conflicting classifications of pathogenicity
rs142117489	16:56,995,975	C/T	—	benign
rs747564264	16:56,995,976	G/A	—	uncertain significance
rs771585518	16:56,995,980	G/A	—	conflicting classifications of pathogenicity
rs777093455	16:56,995,982	C/T	—	uncertain significance
rs147758502	16:56,995,983	G/A	—	uncertain significance
rs1232356826	16:56,995,999	C/T	—	likely benign
rs34680782	16:56,996,060	C/A	—	likely benign
rs17231534	16:56,996,104	A/C	—	benign
rs3816117	16:56,996,158	T/C	—	benign
rs711752	16:56,996,211	G/A	—	benign
rs5030708	16:56,996,279	C/T	—	likely benign
rs708272	16:56,996,288	G/A	intron variant	benign
rs34620476	16:56,996,649	C/A	—	benign
rs59008849	16:56,996,707	G/T	—	likely benign
rs776857859	16:56,996,929	C/G	—	uncertain significance
rs780627434	16:56,996,963	C/T	—	likely pathogenic
rs142464301	16:56,996,985	C/T	—	uncertain significance
rs746717309	16:56,996,986	G/A	—	likely benign
rs2543635386	16:56,996,994	A/G	—	uncertain significance
rs369294786	16:56,996,996	G/C	—	uncertain significance
rs762087842	16:56,997,003	T/A	—	uncertain significance
rs767785661	16:56,997,017	G/C	—	uncertain significance
rs373235102	16:56,997,034	C/T	—	uncertain significance
rs370185178	16:56,997,044	G/A	—	likely benign
rs780907769	16:56,997,051	G/A	—	likely benign
rs9935228	16:56,997,072	A/G	—	benign
rs1864163	16:56,997,233	G/A	intron variant	benign
rs192983539	16:56,997,263	G/T	—	likely benign
rs12720926	16:56,998,918	A/C	—	—
rs11508026	16:56,999,328	C/T	regulatory region variant	—
rs8045855	16:57,000,696	T/A	intron variant	—
rs118146573	16:57,000,938	G/A	intron variant	—
rs4784741	16:57,001,216	C/G	—	—
rs9939224	16:57,002,732	T/C	—	—
rs12708970	16:57,003,025	G/T	—	likely benign
rs60531466	16:57,003,043	C/T	—	benign
rs11076174	16:57,003,146	C/T	—	benign
rs371180917	16:57,003,303	A/G	—	uncertain significance
rs2543643841	16:57,003,306	T/A	—	uncertain significance
rs779052928	16:57,003,323	G/A	—	uncertain significance
rs2056091646	16:57,003,332	C/T	—	pathogenic
rs2056091897	16:57,003,357	C/G	—	uncertain significance
rs765716703	16:57,003,375	A/G	—	uncertain significance
rs147740993	16:57,003,376	G/A	—	likely benign
rs2056092153	16:57,003,378	A/G	—	uncertain significance
rs763194082	16:57,003,379	C/T	—	likely benign
rs371258270	16:57,003,380	G/A	—	conflicting classifications of pathogenicity
rs921684117	16:57,003,401	A/T	—	uncertain significance
rs758294261	16:57,003,422	A/G	—	uncertain significance
rs12708971	16:57,003,461	T/C	—	likely benign
rs376995547	16:57,003,507	C/T	—	likely benign
rs2543644497	16:57,003,511	G/A	—	uncertain significance
rs2056093654	16:57,003,513	C/T	—	likely benign
rs140518082	16:57,003,537	A/T	—	uncertain significance
rs775508511	16:57,003,545	G/A	—	uncertain significance
rs879848326	16:57,003,550	C/T	—	likely benign
rs1433520923	16:57,003,593	A/C	—	uncertain significance
rs200855412	16:57,003,604	A/C	—	benign
rs891141	16:57,003,723	G/T	—	benign
rs372251011	16:57,003,818	C/G	—	benign
rs778814831	16:57,003,829	G/A	—	conflicting classifications of pathogenicity
rs772644949	16:57,003,836	T/C	—	likely benign
rs554738455	16:57,003,837	G/A	—	uncertain significance
rs2543645399	16:57,003,844	T/G	—	uncertain significance
rs1242162410	16:57,003,845	G/A	—	likely benign
rs34716057	16:57,003,846	C/T	—	likely benign
rs184615182	16:57,003,847	G/A	—	uncertain significance
rs201778606	16:57,003,852	G/A	—	likely benign
rs1567471388	16:57,003,906	G/A	—	uncertain significance
rs2141997534	16:57,003,911	A/C	—	uncertain significance
rs2056098429	16:57,003,918	G/A	—	uncertain significance
rs891142	16:57,003,977	T/C	—	benign
rs891143	16:57,003,980	T/C	—	benign
rs12720862	16:57,004,747	A/G	—	benign
rs7205804	16:57,004,889	A/G	—	benign
rs201490558	16:57,004,926	T/A	—	benign
rs2056105721	16:57,004,934	G/T	—	likely benign
rs758533363	16:57,004,945	G/A	—	uncertain significance
rs34611098	16:57,004,951	G/A	—	likely benign
rs142750310	16:57,004,961	C/T	—	conflicting classifications of pathogenicity
rs2543646933	16:57,004,966	G/A	—	likely benign
rs746206629	16:57,004,979	A/G	—	likely benign
rs2543647023	16:57,005,013	A/T	—	uncertain significance
rs2543647032	16:57,005,016	T/A	—	uncertain significance
rs746539100	16:57,005,019	G/A	—	uncertain significance
rs756599078	16:57,005,215	C/T	—	likely benign

Showing 100 of 262 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.