CFH

complement factor H

Summary

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

Known Variants809 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs505102	1:196,619,502	T/C	upstream gene variant	—
rs3753394	1:196,620,917	C/T	regulatory region variant	benign
rs1167191785	1:196,620,929	A/C	—	likely benign
rs74842824	1:196,620,941	C/T	—	benign
rs35836460	1:196,621,053	T/C	—	benign
rs762143457	1:196,621,073	T/C	—	uncertain significance
rs527444515	1:196,621,124	G/T	—	likely benign
rs35906110	1:196,621,169	A/G	—	likely benign
rs886045741	1:196,621,187	A/G	—	uncertain significance
rs140356702	1:196,621,212	G/C	—	likely benign
rs184773114	1:196,621,229	C/T	—	uncertain significance
rs142266551	1:196,621,252	G/C	—	uncertain significance
rs139254423	1:196,621,254	C/G	—	conflicting classifications of pathogenicity
rs1305521799	1:196,621,258	T/C	—	uncertain significance
rs2529283730	1:196,621,261	C/T	—	uncertain significance
rs749875053	1:196,621,263	A/G	—	conflicting classifications of pathogenicity
rs1666520560	1:196,621,279	T/C	—	uncertain significance
rs779670935	1:196,621,280	G/T	—	uncertain significance
rs2529283817	1:196,621,282	T/C	—	uncertain significance
rs768874309	1:196,621,291	T/C	—	conflicting classifications of pathogenicity
rs2529283859	1:196,621,296	G/A	—	uncertain significance
rs1308826580	1:196,621,297	T/G	—	uncertain significance
rs779300578	1:196,621,299	G/T	—	uncertain significance
rs1553270437	1:196,621,305	G/A	—	uncertain significance
rs1666522276	1:196,621,306	G/T	—	likely pathogenic
rs2529283900	1:196,621,310	G/T	—	uncertain significance
rs772573809	1:196,621,311	A/C	—	uncertain significance
rs2529283928	1:196,621,321	A/G	—	likely benign
rs771334291	1:196,621,324	C/T	—	likely benign
rs55747351	1:196,621,455	T/C	—	benign
rs520992	1:196,621,509	T/A	—	benign
rs7524776	1:196,623,337	T/C	intron variant	—
rs529825	1:196,635,106	G/A	intron variant	—
rs6660100	1:196,635,682	C/T	intron variant	—
rs514591	1:196,640,320	A/G	intron variant	—
rs551397	1:196,642,072	C/T	intron variant	benign
rs765558706	1:196,642,088	T/G	—	likely benign
rs201067374	1:196,642,092	T/C	—	likely benign
rs1573008794	1:196,642,098	T/G	—	uncertain significance
rs767494411	1:196,642,114	A/G	—	uncertain significance
rs754932801	1:196,642,116	G/A	—	uncertain significance
rs1558154228	1:196,642,118	A/G	—	likely benign
rs2529329171	1:196,642,122	C/T	—	uncertain significance
rs2529329257	1:196,642,144	T/A	—	uncertain significance
rs1389897706	1:196,642,149	A/T	—	uncertain significance
rs886045742	1:196,642,152	G/A	—	uncertain significance
rs2529329363	1:196,642,165	A/G	—	uncertain significance
rs1192717326	1:196,642,171	C/T	—	uncertain significance
rs1261273441	1:196,642,172	A/G	—	likely benign
rs182750499	1:196,642,174	A/T	—	uncertain significance
rs2529329434	1:196,642,182	G/A	—	uncertain significance
rs778461886	1:196,642,185	A/G	—	uncertain significance
rs1267395447	1:196,642,187	C/G	—	likely benign
rs1160820929	1:196,642,192	C/T	—	uncertain significance
rs747546121	1:196,642,194	A/G	—	uncertain significance
rs2529329503	1:196,642,195	T/C	—	uncertain significance
rs2529329508	1:196,642,199	T/C	—	likely benign
rs757785149	1:196,642,206	C/T	—	pathogenic
rs976333015	1:196,642,207	G/A	—	conflicting classifications of pathogenicity
rs781144436	1:196,642,208	C/G	—	likely benign
rs1667337715	1:196,642,212	G/A	—	uncertain significance
rs141336681	1:196,642,221	T/G	—	conflicting classifications of pathogenicity
rs1667338164	1:196,642,225	T/C	—	uncertain significance
rs1230917528	1:196,642,232	T/C	—	likely benign
rs800292	1:196,642,233	G/A	missense variant	benign
rs771886580	1:196,642,244	A/T	—	uncertain significance
rs760619101	1:196,642,254	G/C	—	uncertain significance
rs1210674261	1:196,642,262	G/A	—	pathogenic
rs766241195	1:196,642,263	G/A	—	uncertain significance
rs1431540496	1:196,642,267	C/T	—	uncertain significance
rs776075595	1:196,642,268	T/C	—	likely benign
rs368835171	1:196,642,269	C/G	—	uncertain significance
rs1439683865	1:196,642,272	A/C	—	uncertain significance
rs764849497	1:196,642,274	T/C	—	likely benign
rs1667341255	1:196,642,284	A/G	—	uncertain significance
rs1313344842	1:196,642,286	A/G	—	likely benign
rs781719657	1:196,642,312	T/C	—	likely benign
rs559350	1:196,642,533	T/C	intron variant	—
rs775088366	1:196,642,970	T/A	—	likely benign
rs200079172	1:196,642,972	T/C	—	conflicting classifications of pathogenicity
rs763773248	1:196,642,975	T/A	—	likely benign
rs537160602	1:196,642,979	C/T	—	likely benign
rs35814900	1:196,642,980	G/A	—	likely benign
rs1311814991	1:196,642,986	G/C	—	pathogenic
rs376337060	1:196,642,987	A/G	—	uncertain significance
rs1239695899	1:196,643,011	A/G	—	conflicting classifications of pathogenicity
rs2529332851	1:196,643,012	T/C	—	likely benign
rs771527214	1:196,643,014	C/G	—	uncertain significance
rs1038374670	1:196,643,015	T/A	—	likely benign
rs886045743	1:196,643,017	C/T	—	uncertain significance
rs1254510583	1:196,643,018	T/A	—	likely benign
rs754591061	1:196,643,026	C/A	—	uncertain significance
rs148182625	1:196,643,027	T/C	—	conflicting classifications of pathogenicity
rs1291982687	1:196,643,042	A/G	—	likely benign
rs1448752091	1:196,643,060	T/C	—	likely benign
rs576819823	1:196,643,074	T/A	—	uncertain significance
rs746858289	1:196,643,075	G/T	—	likely benign
rs770730773	1:196,643,078	T/C	—	likely benign
rs185763958	1:196,643,090	G/A	—	likely benign
rs2149078297	1:196,643,091	G/A	—	uncertain significance

Showing 100 of 809 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.