FOXC2

forkhead box C2

Summary

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]

Known Variants151 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4843396	16:86,599,415	T/C	regulatory region variant	—
rs4843163	16:86,599,526	G/C	upstream gene variant	—
rs78816814	16:86,600,592	G/T	—	benign
rs1350455499	16:86,600,948	G/A	—	uncertain significance
rs1378523304	16:86,600,960	G/A	—	uncertain significance
rs745506389	16:86,600,961	T/C	—	uncertain significance
rs375205036	16:86,600,962	G/A	—	likely benign
rs2507943944	16:86,600,987	G/C	—	uncertain significance
rs1597402311	16:86,601,010	T/C	—	likely benign
rs2144018176	16:86,601,021	C/T	—	uncertain significance
rs1196954403	16:86,601,039	G/T	—	uncertain significance
rs138318843	16:86,601,049	C/T	—	likely benign
rs1043354227	16:86,601,063	A/T	—	pathogenic
rs886775310	16:86,601,065	T/G	—	uncertain significance
rs747725530	16:86,601,095	A/G	—	uncertain significance
rs746195395	16:86,601,102	G/T	—	uncertain significance
rs2144018400	16:86,601,110	G/T	—	uncertain significance
rs145253475	16:86,601,124	C/T	—	benign
rs758005564	16:86,601,184	C/T	—	likely benign
rs750865152	16:86,601,192	C/A	—	uncertain significance
rs768803682	16:86,601,208	C/G	—	likely benign
rs748182598	16:86,601,211	G/A	—	likely benign
rs104894516	16:86,601,238	C/G	stop gained	pathogenic
rs2144018707	16:86,601,239	C/T	—	pathogenic
rs1328794386	16:86,601,253	C/T	—	likely benign
rs1171987648	16:86,601,260	C/G	—	uncertain significance
rs762735481	16:86,601,262	C/G	—	likely benign
rs1974216738	16:86,601,288	G/A	—	likely pathogenic
rs886038560	16:86,601,292	G/A	—	likely benign
rs375618253	16:86,601,295	C/T	—	benign
rs375500879	16:86,601,299	A/G	—	uncertain significance
rs1567571184	16:86,601,302	C/T	—	pathogenic
rs121909107	16:86,601,303	G/A	missense variant	pathogenic
rs2507944556	16:86,601,306	A/C	—	uncertain significance
rs121909106	16:86,601,315	C/T	missense variant	pathogenic
rs748344148	16:86,601,316	G/C	—	likely benign
rs2507944583	16:86,601,331	C/A	—	uncertain significance
rs1405787618	16:86,601,349	C/T	—	uncertain significance
rs886038561	16:86,601,352	C/T	—	likely benign
rs944950685	16:86,601,358	G/A	—	likely benign
rs201833900	16:86,601,360	C/T	—	uncertain significance
rs1202926077	16:86,601,362	G/A	—	uncertain significance
rs2507944624	16:86,601,363	G/T	—	uncertain significance
rs41312258	16:86,601,367	G/A	—	benign
rs79452610	16:86,601,376	C/T	—	benign
rs201189554	16:86,601,381	C/T	—	uncertain significance
rs766826259	16:86,601,386	G/C	—	uncertain significance
rs1271328094	16:86,601,388	C/A	—	uncertain significance
rs868831268	16:86,601,458	G/T	—	uncertain significance
rs370541542	16:86,601,476	G/A	—	uncertain significance
rs1473396239	16:86,601,477	A/G	—	uncertain significance
rs751774927	16:86,601,504	C/T	—	uncertain significance
rs200483763	16:86,601,507	C/A	—	conflicting classifications of pathogenicity
rs78018668	16:86,601,513	C/T	—	uncertain significance
rs774058810	16:86,601,519	G/A	—	uncertain significance
rs747819833	16:86,601,521	G/T	—	uncertain significance
rs200751941	16:86,601,524	C/G	—	uncertain significance
rs764469563	16:86,601,543	C/T	—	conflicting classifications of pathogenicity
rs550350665	16:86,601,545	G/A	—	likely benign
rs201456476	16:86,601,546	A/C	—	conflicting classifications of pathogenicity
rs756307803	16:86,601,549	C/A	—	uncertain significance
rs779821571	16:86,601,551	C/T	—	uncertain significance
rs372749779	16:86,601,565	G/A	—	benign
rs199935844	16:86,601,568	G/A	—	benign
rs79883807	16:86,601,589	G/A	—	likely benign
rs1435098450	16:86,601,609	C/T	—	uncertain significance
rs762323283	16:86,601,629	A/G	—	uncertain significance
rs200039004	16:86,601,636	G/A	—	likely benign
rs1322051872	16:86,601,649	G/A	—	likely benign
rs1555531333	16:86,601,653	C/T	—	pathogenic
rs1022844166	16:86,601,665	C/A	—	uncertain significance
rs375784716	16:86,601,685	C/T	—	benign
rs113512008	16:86,601,688	C/G	—	likely benign
rs966178183	16:86,601,701	G/C	—	uncertain significance
rs922145263	16:86,601,711	C/A	—	uncertain significance
rs2507945280	16:86,601,716	C/A	—	uncertain significance
rs1974225710	16:86,601,723	C/A	—	uncertain significance
rs1349299361	16:86,601,728	G/A	—	uncertain significance
rs777576591	16:86,601,736	C/T	—	likely benign
rs968140048	16:86,601,743	C/T	—	uncertain significance
rs1974226189	16:86,601,746	G/A	—	uncertain significance
rs1272731899	16:86,601,755	G/A	—	uncertain significance
rs746615192	16:86,601,773	C/T	—	likely benign
rs1458484818	16:86,601,790	G/A	—	likely benign
rs2507945472	16:86,601,797	G/C	—	uncertain significance
rs2507945488	16:86,601,800	C/G	—	uncertain significance
rs2507945494	16:86,601,804	G/T	—	uncertain significance
rs769190596	16:86,601,812	G/T	—	uncertain significance
rs1974227479	16:86,601,821	G/A	—	uncertain significance
rs774767014	16:86,601,824	G/A	—	uncertain significance
rs367759818	16:86,601,835	G/A	—	likely benign
rs762234991	16:86,601,838	G/T	—	uncertain significance
rs1597402936	16:86,601,880	C/G	—	likely pathogenic
rs760918154	16:86,601,882	G/A	—	uncertain significance
rs2507945700	16:86,601,884	C/T	—	pathogenic
rs1974229268	16:86,601,898	G/T	—	uncertain significance
rs2507945743	16:86,601,902	C/T	—	likely benign
rs968089550	16:86,601,908	G/T	—	uncertain significance
rs776762340	16:86,601,911	G/T	—	uncertain significance
rs2507945770	16:86,601,912	G/T	—	uncertain significance

Showing 100 of 151 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.