HFE

homeostatic iron regulator

Summary

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]

Known Variants251 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7741769	6:26,085,809	G/A	upstream gene variant	—
rs2794720	6:26,087,202	G/C	—	benign
rs62625313	6:26,087,259	A/C	—	likely benign
rs768639966	6:26,087,573	G/C	—	uncertain significance
rs41266793	6:26,087,621	C/G	—	benign
rs138378000	6:26,087,649	G/A	—	uncertain significance
rs369807746	6:26,087,662	T/C	—	conflicting classifications of pathogenicity
rs770111920	6:26,087,665	G/A	—	uncertain significance
rs558658016	6:26,087,674	C/T	—	likely benign
rs1762350545	6:26,087,685	G/C	—	uncertain significance
rs149342416	6:26,087,686	G/C	—	uncertain significance
rs766754409	6:26,087,688	C/G	—	uncertain significance
rs114758821	6:26,087,689	G/A	—	conflicting classifications of pathogenicity
rs999289975	6:26,087,691	C/T	—	uncertain significance
rs2481576180	6:26,087,692	G/C	—	likely benign
rs2481576394	6:26,087,704	G/C	—	likely benign
rs201657128	6:26,087,708	C/G	—	uncertain significance
rs2481576516	6:26,087,711	T/C	—	likely benign
rs143662783	6:26,087,718	C/T	—	uncertain significance
rs953205703	6:26,087,719	C/T	—	likely benign
rs1432538644	6:26,087,722	G/A	—	likely benign
rs749460044	6:26,087,725	C/T	—	likely benign
rs148161858	6:26,087,736	G/A	—	conflicting classifications of pathogenicity
rs776994377	6:26,087,746	T/C	—	likely pathogenic
rs1354115687	6:26,087,752	C/T	—	likely benign
rs2113726940	6:26,087,753	G/T	—	likely benign
rs201666949	6:26,087,755	G/A	—	likely benign
rs896080299	6:26,087,756	G/A	—	likely benign
rs950196580	6:26,087,757	G/A	—	likely benign
rs762584895	6:26,087,759	T/G	—	likely benign
rs972192371	6:26,087,761	C/T	—	likely benign
rs763724750	6:26,087,764	G/A	—	likely benign
rs2858993	6:26,087,856	T/A	—	benign
rs9366637	6:26,089,098	C/T	intron variant	—
rs56275179	6:26,089,340	G/C	intron variant	—
rs34555420	6:26,090,270	G/C	intron variant	—
rs1799945	6:26,090,951	C/G	missense variant	pathogenic
rs2481600754	6:26,091,064	T/C	—	likely benign
rs766876606	6:26,091,076	C/T	—	likely benign
rs772911078	6:26,091,079	T/C	—	likely benign
rs760685317	6:26,091,080	C/A	—	uncertain significance
rs753662663	6:26,091,091	C/T	—	likely benign
rs1762646707	6:26,091,097	G/C	—	uncertain significance
rs1364493082	6:26,091,099	G/A	—	uncertain significance
rs377254261	6:26,091,102	C/T	—	uncertain significance
rs1762647992	6:26,091,115	C/T	—	likely benign
rs2481601522	6:26,091,121	T/G	—	likely benign
rs1205608152	6:26,091,128	T/C	—	likely benign
rs2113749662	6:26,091,133	T/C	—	likely benign
rs2481601727	6:26,091,137	G/T	—	uncertain significance
rs756070473	6:26,091,148	C/T	—	likely benign
rs28934889	6:26,091,149	G/A	missense variant	uncertain significance
rs2113749837	6:26,091,157	C/T	—	likely benign
rs1398948148	6:26,091,163	G/C	—	likely benign
rs147297176	6:26,091,166	C/T	—	likely benign
rs111033557	6:26,091,167	G/A	missense variant	uncertain significance
rs1684658845	6:26,091,174	A/G	—	uncertain significance
rs147426902	6:26,091,181	T/C	—	likely benign
rs556335391	6:26,091,184	G/A	—	likely benign
rs1800730	6:26,091,185	A/T	missense variant	pathogenic
rs747739169	6:26,091,188	C/T	—	uncertain significance
rs772818312	6:26,091,191	C/T	—	conflicting classifications of pathogenicity
rs139523708	6:26,091,192	G/T	—	uncertain significance
rs1762655923	6:26,091,193	T/C	—	likely benign
rs776668429	6:26,091,194	G/A	—	uncertain significance
rs759524388	6:26,091,203	C/T	—	pathogenic
rs776741897	6:26,091,204	G/A	—	uncertain significance
rs1450662478	6:26,091,209	C/G	—	uncertain significance
rs62625342	6:26,091,220	C/T	—	likely benign
rs28934597	6:26,091,269	G/C	missense variant	pathogenic
rs757281653	6:26,091,270	G/T	—	uncertain significance
rs781284630	6:26,091,271	G/C	—	likely benign
rs2481603630	6:26,091,274	G/T	—	uncertain significance
rs750836160	6:26,091,275	G/C	—	uncertain significance
rs2481603911	6:26,091,305	A/G	—	uncertain significance
rs28934596	6:26,091,306	T/C	missense variant	pathogenic
rs749701561	6:26,091,312	A/G	—	uncertain significance
rs1192141992	6:26,091,333	G/C	—	likely pathogenic
rs2071303	6:26,091,336	C/T	—	likely benign
rs1008111365	6:26,091,344	G/A	—	likely benign
rs2481604506	6:26,091,351	T/C	—	likely benign
rs1161539562	6:26,091,525	G/C	—	likely benign
rs1407042975	6:26,091,530	G/A	—	uncertain significance
rs780658465	6:26,091,531	G/A	—	likely benign
rs1054837033	6:26,091,538	C/G	—	likely benign
rs1762684254	6:26,091,541	G/A	—	likely pathogenic
rs2481606024	6:26,091,545	C/G	—	uncertain significance
rs1581667723	6:26,091,546	C/A	—	likely benign
rs1368079234	6:26,091,553	C/T	—	likely benign
rs754323879	6:26,091,564	C/T	—	likely benign
rs28934595	6:26,091,582	A/C	missense variant	pathogenic
rs201885016	6:26,091,590	A/G	—	uncertain significance
rs369790080	6:26,091,597	C/T	—	likely benign
rs770767702	6:26,091,598	G/A	—	uncertain significance
rs2113752760	6:26,091,602	G/C	—	uncertain significance
rs2481606711	6:26,091,608	G/A	—	pathogenic
rs780563614	6:26,091,615	C/G	—	pathogenic
rs1762692865	6:26,091,618	G/C	—	likely benign
rs1308280557	6:26,091,633	C/T	—	likely benign
rs2113753137	6:26,091,658	C/T	—	likely benign

Showing 100 of 251 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.