ZNF469

zinc finger protein 469

Summary

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]

Known Variants3,532 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs184750324	16:88,195,227	T/G	intergenic variant	—
rs12925439	16:88,239,828	C/G	—	—
rs12925886	16:88,240,146	C/A	intergenic variant	—
rs9928981	16:88,255,713	T/C	intergenic variant	—
rs11646432	16:88,287,844	T/C	intron variant	—
rs12447690	16:88,298,124	C/T	intron variant	—
rs373972610	16:88,306,424	A/G	—	—
rs11117401	16:88,314,452	G/A	intron variant	—
rs193241090	16:88,320,099	C/T	intron variant	—
rs6540223	16:88,321,436	C/T	intron variant	—
rs28493272	16:88,324,245	C/T	intron variant	—
rs35193497	16:88,324,821	T/A	—	—
rs28698209	16:88,324,931	T/G	intron variant	—
rs28687756	16:88,328,928	T/G	intron variant	—
rs28526212	16:88,329,202	G/C	—	—
rs12719932	16:88,330,349	A/G	—	—
rs9938149	16:88,331,640	C/G	—	—
rs118076421	16:88,386,541	G/A	intergenic variant	—
rs9927563	16:88,460,899	T/A	intergenic variant	—
rs140798303	16:88,485,381	C/T	regulatory region variant	—
rs568661500	16:88,493,861	C/A	—	likely benign
rs1326657400	16:88,493,876	G/A	—	uncertain significance
rs1048563743	16:88,493,877	C/T	—	uncertain significance
rs1269584815	16:88,493,879	A/G	—	uncertain significance
rs1294746977	16:88,493,882	C/A	—	uncertain significance
rs1363888195	16:88,493,883	C/T	—	uncertain significance
rs1228271102	16:88,493,891	C/T	—	uncertain significance
rs762382027	16:88,493,892	G/A	—	conflicting classifications of pathogenicity
rs2507569849	16:88,493,893	C/A	—	likely benign
rs1358851048	16:88,493,895	C/T	—	uncertain significance
rs1905764675	16:88,493,896	C/G	—	likely benign
rs1004428835	16:88,493,897	C/T	stop gained	pathogenic
rs1015887121	16:88,493,898	G/A	—	uncertain significance
rs551558555	16:88,493,902	A/G	—	likely benign
rs569870332	16:88,493,904	C/T	—	conflicting classifications of pathogenicity
rs1039392317	16:88,493,905	G/A	—	likely benign
rs281165936	16:88,493,908	G/A	—	likely benign
rs1184091499	16:88,493,910	C/T	—	uncertain significance
rs371091595	16:88,493,914	C/A	—	likely benign
rs1162425645	16:88,493,916	C/T	—	uncertain significance
rs2507569966	16:88,493,927	G/A	—	uncertain significance
rs2507569973	16:88,493,929	C/T	—	likely benign
rs2507569990	16:88,493,935	G/A	—	likely benign
rs1318176936	16:88,493,938	C/A	—	likely benign
rs754101639	16:88,493,939	C/T	—	conflicting classifications of pathogenicity
rs145178398	16:88,493,940	G/A	—	likely benign
rs1313991202	16:88,493,946	T/C	—	likely benign
rs1342788006	16:88,493,948	G/A	—	uncertain significance
rs1319825864	16:88,493,950	C/T	—	likely benign
rs273585616	16:88,493,955	G/C	missense variant	pathogenic
rs567229543	16:88,493,957	C/A	—	uncertain significance
rs1009769670	16:88,493,958	C/T	—	conflicting classifications of pathogenicity
rs534464702	16:88,493,959	G/A	—	conflicting classifications of pathogenicity
rs1210792145	16:88,493,964	A/C	—	uncertain significance
rs2507570106	16:88,493,968	C/T	—	likely benign
rs2507570114	16:88,493,971	C/A	—	likely benign
rs2507570117	16:88,493,972	C/T	—	pathogenic
rs1204405279	16:88,493,974	G/A	—	likely benign
rs752770883	16:88,493,976	C/T	—	conflicting classifications of pathogenicity
rs273585631	16:88,493,977	G/A	synonymous variant	pathogenic
rs960633742	16:88,493,981	C/G	—	uncertain significance
rs2507570150	16:88,493,983	G/A	—	likely benign
rs2507570179	16:88,493,991	A/C	—	uncertain significance
rs2507570185	16:88,493,992	C/T	—	likely benign
rs538850431	16:88,494,013	C/T	—	likely benign
rs1432023172	16:88,494,014	A/C	—	uncertain significance
rs138954293	16:88,494,017	G/A	—	conflicting classifications of pathogenicity
rs916244972	16:88,494,018	G/A	—	likely benign
rs886052388	16:88,494,020	G/A	—	uncertain significance
rs2507570273	16:88,494,022	C/A	—	likely benign
rs2507570317	16:88,494,033	G/A	—	uncertain significance
rs930346629	16:88,494,034	C/T	—	likely benign
rs1257806591	16:88,494,035	G/A	—	likely benign
rs2142296868	16:88,494,039	A/T	—	uncertain significance
rs1343023453	16:88,494,051	T/C	—	uncertain significance
rs746875261	16:88,494,061	C/T	—	likely benign
rs1048845848	16:88,494,062	G/A	—	conflicting classifications of pathogenicity
rs2507570448	16:88,494,063	A/T	—	uncertain significance
rs770775791	16:88,494,064	G/T	—	conflicting classifications of pathogenicity
rs940206015	16:88,494,069	A/T	—	uncertain significance
rs1905779723	16:88,494,070	G/C	—	uncertain significance
rs2507570484	16:88,494,071	C/A	—	uncertain significance
rs2507570491	16:88,494,073	A/T	—	likely benign
rs1905780081	16:88,494,076	G/T	—	uncertain significance
rs2507570498	16:88,494,078	A/G	—	uncertain significance
rs1480556450	16:88,494,079	G/A	—	uncertain significance
rs2507570516	16:88,494,086	G/A	—	uncertain significance
rs745660773	16:88,494,088	C/T	—	likely benign
rs973947037	16:88,494,089	G/A	—	uncertain significance
rs543285355	16:88,494,094	G/T	—	conflicting classifications of pathogenicity
rs998864240	16:88,494,100	G/A	—	likely benign
rs1350300664	16:88,494,101	C/A	—	uncertain significance
rs1049722407	16:88,494,103	C/T	—	likely benign
rs1905782461	16:88,494,104	C/G	—	uncertain significance
rs1387545577	16:88,494,110	C/T	—	likely benign
rs2507570565	16:88,494,112	G/A	—	likely benign
rs775103017	16:88,494,126	C/T	—	conflicting classifications of pathogenicity
rs982637529	16:88,494,127	G/A	—	likely benign
rs1344211445	16:88,494,130	C/T	—	likely benign
rs1010942366	16:88,494,141	G/A	—	uncertain significance

Showing 100 of 3,532 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.