EYS

EGF-like photoreceptor maintenance factor

Summary

The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Known Variants3,443 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs780180886	6:64,429,938	T/C	—	uncertain significance
rs1768312466	6:64,429,944	C/T	—	uncertain significance
rs193035948	6:64,429,963	T/G	—	uncertain significance
rs1017192510	6:64,429,978	T/C	—	uncertain significance
rs553600976	6:64,430,206	A/T	—	uncertain significance
rs572403267	6:64,430,214	A/G	—	uncertain significance
rs1195516155	6:64,430,303	A/G	—	uncertain significance
rs886061663	6:64,430,394	T/C	—	uncertain significance
rs2533384112	6:64,430,493	T/C	—	likely benign
rs1348024945	6:64,430,494	A/C	—	uncertain significance
rs1004373312	6:64,430,495	T/C	—	conflicting classifications of pathogenicity
rs1038659994	6:64,430,500	C/T	—	uncertain significance
rs2149623345	6:64,430,504	A/G	—	likely benign
rs898765917	6:64,430,507	T/G	—	uncertain significance
rs2533384194	6:64,430,510	T/C	—	likely benign
rs374161234	6:64,430,513	A/C	—	conflicting classifications of pathogenicity
rs2149623385	6:64,430,519	A/G	—	likely benign
rs2533384319	6:64,430,524	A/G	—	uncertain significance
rs2149623403	6:64,430,526	A/G	—	uncertain significance
rs2149623409	6:64,430,528	A/G	—	likely benign
rs2149623417	6:64,430,531	G/A	—	likely benign
rs772888249	6:64,430,535	C/G	—	conflicting classifications of pathogenicity
rs2533384519	6:64,430,539	C/A	—	pathogenic
rs762511752	6:64,430,546	A/C	—	uncertain significance
rs1768338166	6:64,430,548	T/C	—	uncertain significance
rs2149623454	6:64,430,549	T/A	—	likely benign
rs2149623464	6:64,430,555	A/C	—	uncertain significance
rs770840726	6:64,430,556	A/G	—	uncertain significance
rs2149623476	6:64,430,558	G/A	—	likely benign
rs1420530149	6:64,430,559	T/G	—	uncertain significance
rs2149623493	6:64,430,561	T/C	—	likely benign
rs2149623515	6:64,430,573	A/G	—	likely benign
rs953147842	6:64,430,575	A/G	—	uncertain significance
rs1768340561	6:64,430,579	T/C	—	likely benign
rs1180167311	6:64,430,581	C/G	—	uncertain significance
rs1402274348	6:64,430,582	A/G	—	likely benign
rs748838955	6:64,430,583	A/T	—	likely pathogenic
rs1768342137	6:64,430,589	T/C	—	uncertain significance
rs2149623556	6:64,430,591	A/G	—	likely benign
rs1267963237	6:64,430,593	T/C	—	uncertain significance
rs1582139184	6:64,430,598	C/G	—	likely pathogenic
rs1768342928	6:64,430,600	A/G	—	likely benign
rs1357829953	6:64,430,603	A/G	—	likely benign
rs2533385237	6:64,430,606	A/G	—	likely benign
rs1768343542	6:64,430,614	T/A	—	pathogenic
rs2533385384	6:64,430,623	C/T	—	uncertain significance
rs1032060937	6:64,430,624	T/C	—	likely benign
rs1768344207	6:64,430,626	G/A	—	pathogenic
rs987915164	6:64,430,627	A/C	—	likely benign
rs1768344840	6:64,430,633	G/A	—	likely benign
rs2533385589	6:64,430,636	A/G	—	likely benign
rs2533385619	6:64,430,639	T/C	—	likely benign
rs957507133	6:64,430,642	C/T	—	likely benign
rs2533385672	6:64,430,647	T/C	—	uncertain significance
rs1768345480	6:64,430,648	A/G	—	likely benign
rs2149623660	6:64,430,651	A/G	—	likely benign
rs1768345799	6:64,430,655	T/G	—	uncertain significance
rs1768345901	6:64,430,658	A/G	—	uncertain significance
rs913465684	6:64,430,664	C/T	—	uncertain significance
rs1261702937	6:64,430,667	A/G	—	uncertain significance
rs1190932109	6:64,430,669	A/T	—	likely pathogenic
rs2533385951	6:64,430,675	A/G	—	likely benign
rs767297095	6:64,430,678	G/A	—	likely benign
rs1445730109	6:64,430,679	C/T	—	uncertain significance
rs139944387	6:64,430,690	T/C	—	conflicting classifications of pathogenicity
rs760931603	6:64,430,692	G/C	—	uncertain significance
rs1216142255	6:64,430,693	A/C	—	likely benign
rs1384692151	6:64,430,699	A/G	—	likely benign
rs2149623765	6:64,430,701	A/G	—	uncertain significance
rs1768349838	6:64,430,706	T/G	—	uncertain significance
rs1768349937	6:64,430,708	A/T	—	uncertain significance
rs1768350048	6:64,430,709	T/G	—	uncertain significance
rs2149623795	6:64,430,711	T/C	—	likely benign
rs1561993439	6:64,430,713	G/T	—	uncertain significance
rs1384417816	6:64,430,716	C/G	—	uncertain significance
rs1313678324	6:64,430,720	A/G	—	likely benign
rs1241787129	6:64,430,725	C/T	—	uncertain significance
rs1261162221	6:64,430,726	G/A	—	likely benign
rs2149623836	6:64,430,729	A/G	—	likely benign
rs2533386430	6:64,430,730	A/G	—	uncertain significance
rs2149623844	6:64,430,735	T/A	—	likely benign
rs2149623852	6:64,430,737	G/A	—	likely benign
rs2533386487	6:64,430,739	C/T	—	uncertain significance
rs1203358626	6:64,430,741	G/A	—	likely benign
rs553840761	6:64,430,742	T/C	—	conflicting classifications of pathogenicity
rs1461673108	6:64,430,744	A/G	—	likely benign
rs1561993477	6:64,430,746	T/A	—	uncertain significance
rs1183077620	6:64,430,747	T/G	—	likely benign
rs1241279569	6:64,430,749	T/G	—	uncertain significance
rs1441845742	6:64,430,750	G/C	—	pathogenic
rs1404877416	6:64,430,751	T/C	—	uncertain significance
rs2149623917	6:64,430,754	G/C	—	uncertain significance
rs1182778175	6:64,430,755	C/G	—	uncertain significance
rs2533386751	6:64,430,760	A/G	—	uncertain significance
rs757350552	6:64,430,761	T/C	—	uncertain significance
rs2533386812	6:64,430,762	A/G	—	likely benign
rs2149623955	6:64,430,766	G/A	—	uncertain significance
rs1768354975	6:64,430,771	A/G	—	likely benign
rs2533386976	6:64,430,775	T/C	—	uncertain significance
rs2533387018	6:64,430,780	T/C	—	likely benign

Showing 100 of 3,443 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.