SLC40A1

solute carrier family 40 member 1

Summary

The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]

Known Variants225 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs925927053	2:190,425,417	A/C	—	uncertain significance
rs11539983	2:190,425,474	T/C	—	benign
rs145534461	2:190,425,481	G/A	—	benign
rs2030716543	2:190,425,604	T/A	—	uncertain significance
rs917191527	2:190,425,771	A/G	—	benign
rs886055359	2:190,425,958	G/A	—	uncertain significance
rs886055360	2:190,426,295	C/T	—	uncertain significance
rs61525883	2:190,426,315	C/A	—	benign
rs1488681065	2:190,426,476	T/C	—	uncertain significance
rs201805867	2:190,426,554	C/T	—	benign
rs11568346	2:190,426,639	T/C	—	benign
rs369255146	2:190,426,660	C/T	—	conflicting classifications of pathogenicity
rs182470100	2:190,426,666	C/T	—	benign
rs910343037	2:190,426,714	T/A	—	uncertain significance
rs770368162	2:190,426,718	G/T	—	likely benign
rs778352312	2:190,426,721	C/A	—	uncertain significance
rs769128680	2:190,426,723	T/C	—	uncertain significance
rs2030755066	2:190,426,728	A/G	—	pathogenic
rs1423640117	2:190,426,732	A/G	—	uncertain significance
rs2105618592	2:190,426,748	T/C	—	likely benign
rs142456282	2:190,426,750	C/T	—	conflicting classifications of pathogenicity
rs770129909	2:190,426,751	G/A	—	likely benign
rs1574236070	2:190,426,787	G/A	—	likely benign
rs863224768	2:190,426,800	T/C	—	uncertain significance
rs1409883266	2:190,426,818	T/C	—	likely pathogenic
rs763188298	2:190,426,837	C/T	—	uncertain significance
rs1553492997	2:190,426,839	C/T	—	uncertain significance
rs1060501102	2:190,426,851	C/T	missense variant	pathogenic
rs1313335539	2:190,426,852	C/T	—	likely pathogenic
rs1574236131	2:190,426,895	A/G	—	likely benign
rs531382859	2:190,426,907	G/C	—	likely benign
rs2468764391	2:190,426,915	G/A	—	uncertain significance
rs1287540593	2:190,426,924	T/C	—	likely benign
rs1559009590	2:190,426,930	A/T	—	likely benign
rs748632086	2:190,428,300	G/T	—	likely benign
rs2030824771	2:190,428,306	T/C	—	uncertain significance
rs770079873	2:190,428,310	C/T	—	uncertain significance
rs201434761	2:190,428,317	A/G	—	likely benign
rs572245704	2:190,428,328	C/T	—	uncertain significance
rs113469677	2:190,428,329	G/A	—	likely benign
rs1038983318	2:190,428,332	T/C	—	likely benign
rs375986187	2:190,428,341	C/T	—	likely benign
rs376571265	2:190,428,355	T/A	—	conflicting classifications of pathogenicity
rs45606432	2:190,428,384	G/A	—	benign
rs1281190116	2:190,428,414	G/A	—	uncertain significance
rs372914788	2:190,428,417	A/G	—	uncertain significance
rs11568355	2:190,428,418	T/C	—	benign
rs200360961	2:190,428,456	G/A	—	conflicting classifications of pathogenicity
rs199629095	2:190,428,460	T/C	—	likely benign
rs751897349	2:190,428,461	T/C	—	likely benign
rs1473604871	2:190,428,464	C/T	—	likely benign
rs370435973	2:190,428,487	G/C	—	likely benign
rs200345331	2:190,428,509	G/A	—	likely benign
rs1213886762	2:190,428,521	G/A	—	likely benign
rs2105620216	2:190,428,561	A/C	—	uncertain significance
rs138505684	2:190,428,580	A/G	—	benign
rs2030839564	2:190,428,581	T/G	—	likely benign
rs762113624	2:190,428,592	G/C	—	uncertain significance
rs767933590	2:190,428,593	A/T	—	likely benign
rs387907378	2:190,428,600	C/T	—	uncertain significance
rs146240138	2:190,428,601	G/A	—	likely benign
rs777520713	2:190,428,618	C/T	—	uncertain significance
rs375669132	2:190,428,661	T/C	—	uncertain significance
rs1553493234	2:190,428,663	G/T	—	pathogenic
rs2105620312	2:190,428,664	C/T	—	uncertain significance
rs2030843365	2:190,428,665	T/C	—	likely benign
rs1463049429	2:190,428,674	C/G	—	uncertain significance
rs1436123615	2:190,428,677	C/T	—	uncertain significance
rs1574237452	2:190,428,704	T/C	—	likely benign
rs2468767153	2:190,428,706	C/T	—	uncertain significance
rs1039426650	2:190,428,707	C/T	—	likely benign
rs768744143	2:190,428,719	G/A	—	likely benign
rs2030845781	2:190,428,733	T/C	—	uncertain significance
rs1227198230	2:190,428,735	C/T	—	pathogenic
rs104893671	2:190,428,744	C/T	missense variant	pathogenic
rs2468767214	2:190,428,755	C/T	—	uncertain significance
rs2468767245	2:190,428,782	A/G	—	likely benign
rs1574237521	2:190,428,800	G/A	—	likely benign
rs2468767324	2:190,428,824	T/A	—	likely benign
rs772246537	2:190,428,825	C/T	—	uncertain significance
rs149517113	2:190,428,835	G/A	—	conflicting classifications of pathogenicity
rs371047909	2:190,428,847	C/G	—	uncertain significance
rs763703768	2:190,428,866	A/G	—	likely benign
rs2468767417	2:190,428,881	T/C	—	likely benign
rs780756130	2:190,428,887	C/T	—	likely benign
rs1334849525	2:190,428,891	T/C	—	uncertain significance
rs368420430	2:190,428,903	T/A	missense variant	likely benign
rs104893664	2:190,428,912	C/T	missense variant	pathogenic
rs371014218	2:190,428,933	A/G	—	uncertain significance
rs560312863	2:190,428,936	G/T	—	conflicting classifications of pathogenicity
rs777212338	2:190,428,965	A/G	—	likely benign
rs751379313	2:190,428,970	A/T	—	likely benign
rs28365783	2:190,429,215	C/T	intron variant	—
rs908280739	2:190,430,065	T/C	—	likely benign
rs145600408	2:190,430,066	T/C	—	likely benign
rs1247505541	2:190,430,069	G/A	—	likely benign
rs11568350	2:190,430,096	C/A	missense variant	likely benign
rs147246197	2:190,430,097	T/A	—	conflicting classifications of pathogenicity
rs2468769184	2:190,430,104	A/G	—	likely benign
rs1278475785	2:190,430,142	A/G	—	likely pathogenic

Showing 100 of 225 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.