SLC6A1

solute carrier family 6 member 1

Summary

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]

Known Variants714 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9990174	3:11,040,439	G/T	intron variant	—
rs6342	3:11,057,369	A/G	—	benign
rs150344082	3:11,058,461	A/G	—	likely benign
rs11923810	3:11,058,502	T/C	—	benign
rs60430370	3:11,058,577	C/G	—	likely benign
rs41388950	3:11,058,664	C/T	—	benign
rs11919775	3:11,058,680	G/C	—	benign
rs41362845	3:11,058,881	C/T	—	likely benign
rs200451145	3:11,058,893	G/A	—	likely benign
rs913073947	3:11,058,902	C/A	—	conflicting classifications of pathogenicity
rs6343	3:11,058,903	G/A	—	likely benign
rs547467570	3:11,058,906	C/A	—	likely benign
rs978516736	3:11,058,909	C/T	—	likely benign
rs551940721	3:11,058,910	G/A	—	conflicting classifications of pathogenicity
rs985468330	3:11,058,924	C/T	—	likely benign
rs751108300	3:11,058,925	G/A	—	uncertain significance
rs751250246	3:11,058,927	C/T	—	benign
rs1264567694	3:11,058,928	G/A	—	conflicting classifications of pathogenicity
rs1553687808	3:11,058,934	A/G	—	uncertain significance
rs781163448	3:11,058,935	T/C	—	benign
rs1697187552	3:11,058,937	T/C	—	benign
rs761463345	3:11,058,942	C/T	—	likely benign
rs1385319298	3:11,058,943	G/T	—	pathogenic
rs935976612	3:11,058,949	A/G	—	benign
rs1697188624	3:11,058,951	C/T	—	uncertain significance
rs1490096672	3:11,058,952	G/A	—	uncertain significance
rs2470187806	3:11,058,956	C/T	—	uncertain significance
rs1574890794	3:11,058,966	C/A	—	likely benign
rs2470187909	3:11,058,967	A/C	—	uncertain significance
rs774478277	3:11,058,969	T/C	—	likely benign
rs2470187949	3:11,058,971	A/T	—	uncertain significance
rs142007193	3:11,058,972	C/G	—	conflicting classifications of pathogenicity
rs1395387100	3:11,058,976	C/T	—	uncertain significance
rs2470188002	3:11,058,982	A/G	—	uncertain significance
rs2124905063	3:11,058,986	T/A	—	pathogenic
rs1271404941	3:11,058,987	G/C	—	uncertain significance
rs1334690406	3:11,058,994	A/G	—	conflicting classifications of pathogenicity
rs767066259	3:11,058,996	G/C	—	uncertain significance
rs2470188129	3:11,059,000	C/G	—	uncertain significance
rs896043314	3:11,059,006	A/G	—	uncertain significance
rs950369271	3:11,059,007	A/C	—	uncertain significance
rs139224269	3:11,059,011	G/A	—	likely benign
rs866130390	3:11,059,012	G/A	—	benign
rs1353258550	3:11,059,015	G/A	—	uncertain significance
rs2124905241	3:11,059,018	C/T	—	uncertain significance
rs142759144	3:11,059,023	C/T	—	likely benign
rs764382700	3:11,059,024	G/A	—	likely benign
rs371207948	3:11,059,026	C/A	—	likely benign
rs1553687863	3:11,059,027	C/T	—	pathogenic
rs794726859	3:11,059,028	G/A	missense variant	pathogenic
rs1559621800	3:11,059,032	C/T	—	likely benign
rs762550927	3:11,059,034	C/T	—	conflicting classifications of pathogenicity
rs183069336	3:11,059,035	G/C	—	likely benign
rs2470188578	3:11,059,040	A/T	—	uncertain significance
rs751216831	3:11,059,041	G/T	—	conflicting classifications of pathogenicity
rs754493263	3:11,059,045	C/T	—	conflicting classifications of pathogenicity
rs766945941	3:11,059,046	G/T	—	likely pathogenic
rs2470188645	3:11,059,048	T/C	—	uncertain significance
rs1553687887	3:11,059,049	T/A	—	conflicting classifications of pathogenicity
rs2470188670	3:11,059,050	C/T	—	uncertain significance
rs1574891085	3:11,059,051	G/T	—	uncertain significance
rs2470188736	3:11,059,056	C/T	—	likely benign
rs1017069383	3:11,059,057	C/T	—	conflicting classifications of pathogenicity
rs752627902	3:11,059,059	C/G	—	likely benign
rs2470188770	3:11,059,060	A/G	—	uncertain significance
rs2124905468	3:11,059,061	T/C	—	uncertain significance
rs2470188789	3:11,059,062	G/A	—	uncertain significance
rs1574891108	3:11,059,064	C/T	—	likely pathogenic
rs1697196424	3:11,059,066	T/G	—	uncertain significance
rs2124905489	3:11,059,067	G/A	—	uncertain significance
rs2124905507	3:11,059,076	A/C	—	likely pathogenic
rs2124905520	3:11,059,079	C/T	—	uncertain significance
rs1465313059	3:11,059,083	C/T	—	likely benign
rs1057523845	3:11,059,084	G/A	missense variant	pathogenic
rs2470188981	3:11,059,087	C/T	—	likely benign
rs1697197329	3:11,059,091	G/A	—	likely pathogenic
rs1064795392	3:11,059,093	A/G	missense variant	pathogenic
rs1479789276	3:11,059,096	G/A	—	pathogenic
rs1574891179	3:11,059,098	C/T	—	likely benign
rs2470189052	3:11,059,104	G/T	—	likely pathogenic
rs2470189094	3:11,059,112	A/G	—	uncertain significance
rs2470189101	3:11,059,115	T/C	—	uncertain significance
rs139045747	3:11,059,119	C/A	—	pathogenic
rs1064795852	3:11,059,120	G/A	missense variant	pathogenic
rs2124905654	3:11,059,121	G/A	—	likely pathogenic
rs2124905696	3:11,059,129	G/T	—	likely pathogenic
rs1697199338	3:11,059,130	G/C	—	uncertain significance
rs1085307804	3:11,059,132	G/A	missense variant	pathogenic
rs1553687907	3:11,059,133	G/T	—	likely pathogenic
rs1392190073	3:11,059,134	G/A	—	uncertain significance
rs1574891285	3:11,059,136	G/T	—	likely pathogenic
rs747465142	3:11,059,140	G/T	—	uncertain significance
rs2124905739	3:11,059,142	G/A	—	likely benign
rs2124905757	3:11,059,144	T/C	—	likely benign
rs138505143	3:11,059,149	C/T	—	benign
rs777160167	3:11,059,150	G/A	—	likely benign
rs762139954	3:11,059,152	G/A	—	benign
rs765574775	3:11,059,153	G/T	—	likely benign
rs763764950	3:11,059,516	T/C	—	likely benign
rs1270790611	3:11,059,523	C/T	—	likely benign

Showing 100 of 714 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.