MEFV

MEFV innate immunity regulator, pyrin

Summary

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]

Known Variants966 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs950693142	16:3,292,045	T/A	—	uncertain significance
rs568129540	16:3,292,061	T/C	—	uncertain significance
rs450021	16:3,292,085	A/C	—	benign
rs142648477	16:3,292,112	C/G	—	uncertain significance
rs1305464681	16:3,292,133	T/C	—	uncertain significance
rs1316887692	16:3,292,139	C/G	—	uncertain significance
rs1354569506	16:3,292,160	T/C	—	uncertain significance
rs896051894	16:3,292,182	A/G	—	uncertain significance
rs914879585	16:3,292,279	T/G	—	uncertain significance
rs371608683	16:3,292,296	G/A	—	uncertain significance
rs886051965	16:3,292,323	T/G	—	uncertain significance
rs552125584	16:3,292,344	A/G	—	uncertain significance
rs281865551	16:3,292,380	G/C	—	uncertain significance
rs170387	16:3,292,398	A/G	—	benign
rs886051968	16:3,292,417	C/T	—	uncertain significance
rs1184351783	16:3,292,420	A/T	—	uncertain significance
rs368896227	16:3,292,440	C/T	—	uncertain significance
rs1596349291	16:3,292,446	G/C	—	uncertain significance
rs1308863589	16:3,292,451	C/A	—	uncertain significance
rs886051969	16:3,292,462	G/C	—	uncertain significance
rs181380218	16:3,292,502	C/T	—	uncertain significance
rs1026430345	16:3,292,562	G/T	—	uncertain significance
rs886051970	16:3,292,598	G/A	—	uncertain significance
rs11466052	16:3,292,666	T/C	—	benign
rs11466051	16:3,292,667	G/C	—	benign
rs766365739	16:3,292,738	T/G	—	uncertain significance
rs1017341912	16:3,292,747	G/A	—	uncertain significance
rs560496227	16:3,292,849	G/C	—	uncertain significance
rs562541179	16:3,292,861	C/G	—	uncertain significance
rs2741918	16:3,292,874	C/T	—	likely benign
rs2741919	16:3,292,896	C/T	—	likely benign
rs114930858	16:3,292,951	C/G	—	conflicting classifications of pathogenicity
rs558576646	16:3,292,972	G/A	—	uncertain significance
rs2075849	16:3,293,008	C/T	—	likely benign
rs11466050	16:3,293,067	G/A	—	conflicting classifications of pathogenicity
rs104895200	16:3,293,120	G/C	—	not provided
rs761376734	16:3,293,122	G/A	—	uncertain significance
rs104895183	16:3,293,129	A/G	—	not provided
rs11466048	16:3,293,132	G/A	—	conflicting classifications of pathogenicity
rs104895154	16:3,293,149	G/T	—	conflicting classifications of pathogenicity
rs104895153	16:3,293,150	C/G	—	conflicting classifications of pathogenicity
rs1459541096	16:3,293,151	C/A	—	uncertain significance
rs2141664404	16:3,293,154	T/C	—	uncertain significance
rs1366885918	16:3,293,155	G/A	—	uncertain significance
rs573854615	16:3,293,158	C/G	—	uncertain significance
rs1479429941	16:3,293,160	C/G	—	uncertain significance
rs1430125672	16:3,293,169	C/T	—	uncertain significance
rs104895163	16:3,293,173	T/C	—	conflicting classifications of pathogenicity
rs2543138688	16:3,293,174	A/T	—	likely benign
rs1488237213	16:3,293,177	C/T	—	likely benign
rs387907565	16:3,293,182	G/C	—	uncertain significance
rs748264438	16:3,293,184	G/C	—	uncertain significance
rs2543138714	16:3,293,186	T/C	—	likely benign
rs148707371	16:3,293,191	T/G	—	uncertain significance
rs142352887	16:3,293,195	C/A	—	conflicting classifications of pathogenicity
rs2543138747	16:3,293,196	C/G	—	uncertain significance
rs2141664466	16:3,293,200	C/T	—	conflicting classifications of pathogenicity
rs1404914694	16:3,293,204	A/G	—	likely benign
rs104895097	16:3,293,205	C/T	missense variant	pathogenic
rs774807554	16:3,293,206	G/T	—	conflicting classifications of pathogenicity
rs759769839	16:3,293,208	G/A	—	uncertain significance
rs104895114	16:3,293,215	G/A	—	not provided
rs772754956	16:3,293,216	G/A	—	conflicting classifications of pathogenicity
rs2543138802	16:3,293,219	G/A	—	likely benign
rs776137465	16:3,293,222	G/A	—	likely benign
rs104895194	16:3,293,224	T/C	—	conflicting classifications of pathogenicity
rs104895174	16:3,293,228	T/C	—	likely benign
rs1489831475	16:3,293,234	G/C	—	likely benign
rs1402790605	16:3,293,237	C/T	—	likely benign
rs104895171	16:3,293,241	G/C	—	conflicting classifications of pathogenicity
rs1407457811	16:3,293,251	A/G	—	uncertain significance
rs61732874	16:3,293,257	C/T	missense variant	uncertain significance
rs104895152	16:3,293,258	G/C	—	conflicting classifications of pathogenicity
rs104895216	16:3,293,259	A/T	—	not provided
rs876661026	16:3,293,260	A/G	—	uncertain significance
rs1958884329	16:3,293,261	T/C	—	likely benign
rs1437902207	16:3,293,267	G/T	—	likely benign
rs1372111494	16:3,293,273	G/A	—	likely benign
rs2141664612	16:3,293,279	G/A	—	likely benign
rs375450800	16:3,293,282	T/C	—	likely benign
rs1958885115	16:3,293,283	G/A	—	uncertain significance
rs956722067	16:3,293,285	C/T	—	likely benign
rs1245305931	16:3,293,293	A/G	—	uncertain significance
rs2543139003	16:3,293,298	G/C	—	uncertain significance
rs28940579	16:3,293,310	A/T	missense variant	uncertain significance
rs104895117	16:3,293,318	G/A	—	conflicting classifications of pathogenicity
rs762351424	16:3,293,321	C/T	—	likely benign
rs104895201	16:3,293,323	C/T	—	conflicting classifications of pathogenicity
rs11466047	16:3,293,324	G/A	—	conflicting classifications of pathogenicity
rs104895102	16:3,293,327	G/C	—	conflicting classifications of pathogenicity
rs1023300125	16:3,293,329	T/C	—	uncertain significance
rs545517350	16:3,293,337	C/A	—	conflicting classifications of pathogenicity
rs104895192	16:3,293,338	G/T	—	uncertain significance
rs1596349932	16:3,293,340	T/A	—	uncertain significance
rs746092199	16:3,293,341	T/C	—	conflicting classifications of pathogenicity
rs758628487	16:3,293,346	G/A	—	conflicting classifications of pathogenicity
rs1958887093	16:3,293,347	G/A	—	uncertain significance
rs778286164	16:3,293,357	T/C	—	likely benign
rs104895184	16:3,293,361	A/C	—	not provided
rs1958887477	16:3,293,363	G/A	—	likely benign

Showing 100 of 966 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.