SLCO1B1

solute carrier organic anion transporter family member 1B1

Pharmacogene

Summary

This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]

Known Variants228 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs139257324	12:21,172,734	C/T	missense variant	uncertain significance
rs373327528	12:21,172,776	G/A	missense variant	—
rs2306282	12:21,176,868	A/G	missense variant	benign
rs145144129	12:21,176,871	G/A	missense variant	uncertain significance
rs77271279	12:21,176,898	G/T	splice donor variant	conflicting classifications of pathogenicity
rs141467543	12:21,178,612	A/G	missense variant	—
rs79135870	12:21,178,957	A/G	missense variant	conflicting classifications of pathogenicity
rs11045852	12:21,196,951	A/G	missense variant	likely benign
rs11045853	12:21,196,976	G/A	missense variant	uncertain significance
rs72559747	12:21,200,544	C/G	missense variant	benign
rs1228465562	12:21,202,553	T/G	missense variant	—
rs59113707	12:21,202,555	C/G	missense variant	likely benign
rs56387224	12:21,202,649	A/G	missense variant	—
rs142965323	12:21,202,664	G/A	missense variant	uncertain significance
rs72559748	12:21,205,921	A/G	missense variant	—
rs74064213	12:21,206,031	A/G	missense variant	likely benign
rs34671512	12:21,239,042	A/C	missense variant	benign
rs56199088	12:21,239,077	A/G	missense variant	—
rs200995543	12:21,239,145	C/T	missense variant	uncertain significance
rs140790673	12:21,239,158	C/T	missense variant	—
rs4149013	12:21,282,410	A/G	upstream gene variant	—
rs4149014	12:21,282,953	T/G	upstream gene variant	—
rs4149015	12:21,283,322	G/C	—	—
rs886049143	12:21,284,128	A/G	—	uncertain significance
rs1441556482	12:21,284,180	A/G	—	uncertain significance
rs4149018	12:21,291,561	T/G	intron variant	—
rs2010668	12:21,294,293	T/G	—	benign
rs180888034	12:21,294,506	A/C	—	uncertain significance
rs1940309529	12:21,294,539	G/T	—	uncertain significance
rs2498109273	12:21,294,540	C/T	—	uncertain significance
rs758561937	12:21,294,573	G/C	—	uncertain significance
rs142087529	12:21,294,574	A/T	—	uncertain significance
rs190581845	12:21,294,587	T/C	—	likely benign
rs1017205455	12:21,294,594	T/G	—	uncertain significance
rs4149021	12:21,294,785	G/A	—	benign
rs12582717	12:21,296,806	C/G	intron variant	—
rs7489119	12:21,305,298	C/A	intron variant	—
rs568939331	12:21,308,195	A/G	—	—
rs577083514	12:21,311,845	A/G	—	—
rs10841753	12:21,321,370	T/C	intron variant	—
rs7295464	12:21,325,347	G/A	—	benign
rs780511571	12:21,325,623	A/C	—	uncertain significance
rs746610546	12:21,325,626	C/A	—	uncertain significance
rs769900186	12:21,325,651	C/T	—	uncertain significance
rs61760182	12:21,325,669	G/A	—	uncertain significance
rs144164853	12:21,325,683	T/C	—	uncertain significance
rs148697674	12:21,325,709	C/T	—	likely benign
rs56101265	12:21,325,716	T/C	missense variant	—
rs1251292787	12:21,325,724	T/G	—	uncertain significance
rs2291073	12:21,325,814	T/G	—	benign
rs2291074	12:21,325,949	A/G	—	benign
rs60318946	12:21,326,728	A/G	intron variant	—
rs56061388	12:21,327,529	T/C	missense variant	—
rs2121100998	12:21,327,547	G/A	—	uncertain significance
rs1258500103	12:21,327,595	T/A	—	uncertain significance
rs773434165	12:21,327,598	G/T	—	uncertain significance
rs200227560	12:21,327,601	T/C	—	uncertain significance
rs2498171615	12:21,327,632	C/A	—	uncertain significance
rs4149036	12:21,327,740	C/A	—	benign
rs964614	12:21,329,390	T/C	—	benign
rs964615	12:21,329,424	C/T	—	benign
rs886049144	12:21,329,695	G/A	—	uncertain significance
rs1940825633	12:21,329,723	A/G	—	uncertain significance
rs2498175396	12:21,329,732	A/C	—	uncertain significance
rs2306283	12:21,329,738	A/G	missense	benign
rs11045818	12:21,329,761	G/A	synonymous variant	likely benign
rs11045819	12:21,329,813	C/A	missense variant	likely benign
rs72559745	12:21,329,817	A/G	missense variant	—
rs11045820	12:21,329,991	C/T	—	benign
rs4149044	12:21,329,996	A/T	—	benign
rs4149045	12:21,330,020	G/A	—	benign
rs4149046	12:21,330,022	G/A	—	benign
rs4149051	12:21,331,057	A/G	downstream gene variant	—
rs4149052	12:21,331,059	A/G	downstream gene variant	—
rs4149054	12:21,331,179	G/A	—	benign
rs74541382	12:21,331,499	T/C	—	benign
rs138374684	12:21,331,513	G/A	—	uncertain significance
rs1378329082	12:21,331,521	G/A	—	uncertain significance
rs751041337	12:21,331,524	T/C	—	uncertain significance
rs4149056	12:21,331,549	T/C	missense	drug response
rs4149057	12:21,331,599	T/C	—	benign
rs1240745256	12:21,331,612	A/G	—	uncertain significance
rs2291075	12:21,331,625	C/T	synonymous variant	likely benign
rs556914358	12:21,331,629	A/G	—	uncertain significance
rs1205419424	12:21,331,855	G/A	—	uncertain significance
rs201722521	12:21,331,860	A/G	—	likely benign
rs752897663	12:21,331,866	T/A	—	uncertain significance
rs2498180277	12:21,331,880	T/C	—	uncertain significance
rs1940857736	12:21,331,884	T/A	—	likely benign
rs139691245	12:21,331,889	T/A	—	uncertain significance
rs950082311	12:21,331,897	T/C	—	uncertain significance
rs370943869	12:21,331,901	C/T	—	uncertain significance
rs374328647	12:21,331,922	A/C	—	uncertain significance
rs147421160	12:21,331,930	G/A	—	uncertain significance
rs2291076	12:21,331,987	C/T	—	benign
rs562655866	12:21,333,782	T/C	—	—
rs12819994	12:21,334,369	G/C	downstream gene variant	—
rs56148886	12:21,334,570	T/C	downstream gene variant	—
rs11045826	12:21,334,599	T/G	—	—
rs1564370	12:21,335,190	C/G	intron variant	—

Showing 100 of 228 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.