OPN1SW

opsin 1, short wave sensitive

Summary

This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

Known Variants243 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs776133013	7:128,412,598	T/C	—	uncertain significance
rs2128885271	7:128,412,604	C/T	—	uncertain significance
rs140568559	7:128,412,618	C/T	—	likely benign
rs1426092236	7:128,412,620	A/G	—	uncertain significance
rs1801627332	7:128,412,621	G/A	—	likely benign
rs1389369635	7:128,412,624	A/C	—	likely benign
rs1801627905	7:128,412,625	G/A	—	uncertain significance
rs376418066	7:128,412,628	G/A	—	uncertain significance
rs1336176040	7:128,412,636	T/G	—	likely benign
rs1351782596	7:128,412,646	G/T	—	uncertain significance
rs374287355	7:128,412,654	T/C	—	likely benign
rs750190072	7:128,412,656	T/C	—	uncertain significance
rs545093905	7:128,412,659	C/G	—	uncertain significance
rs368257791	7:128,412,660	G/A	—	likely benign
rs2536286539	7:128,412,666	A/G	—	likely benign
rs2536286542	7:128,412,667	T/G	—	uncertain significance
rs755147227	7:128,412,672	C/T	—	uncertain significance
rs946529537	7:128,412,686	A/C	—	uncertain significance
rs1801633476	7:128,412,697	A/C	—	uncertain significance
rs201497890	7:128,412,700	A/G	—	uncertain significance
rs371754125	7:128,412,707	C/G	—	uncertain significance
rs2128885337	7:128,412,708	T/C	—	uncertain significance
rs540420837	7:128,412,709	T/C	—	likely benign
rs200091747	7:128,412,710	G/A	—	uncertain significance
rs374687514	7:128,412,721	G/T	—	likely benign
rs768216743	7:128,412,723	A/T	—	likely benign
rs367791096	7:128,412,731	A/G	—	likely benign
rs1236804194	7:128,412,732	T/C	—	likely benign
rs1868774	7:128,412,982	G/A	downstream gene variant	—
rs202221519	7:128,413,690	T/C	—	likely benign
rs1175450974	7:128,413,703	C/T	—	uncertain significance
rs78532499	7:128,413,726	T/C	—	benign
rs1047554910	7:128,413,733	A/C	—	uncertain significance
rs573575684	7:128,413,746	G/A	—	uncertain significance
rs1464792950	7:128,413,765	A/G	—	uncertain significance
rs753699287	7:128,413,771	T/A	—	uncertain significance
rs765405779	7:128,413,772	G/A	—	likely benign
rs1424127387	7:128,413,773	G/T	—	uncertain significance
rs140313670	7:128,413,774	T/C	—	uncertain significance
rs79158266	7:128,413,777	C/A	missense variant	—
rs778481357	7:128,413,783	G/C	—	conflicting classifications of pathogenicity
rs2536289497	7:128,413,785	A/G	—	uncertain significance
rs375615377	7:128,413,803	C/T	—	uncertain significance
rs374829961	7:128,413,804	G/T	—	uncertain significance
rs1801688159	7:128,413,813	C/T	—	uncertain significance
rs757952838	7:128,413,814	C/T	—	uncertain significance
rs776523473	7:128,413,815	A/G	—	uncertain significance
rs1420631619	7:128,413,816	T/C	—	uncertain significance
rs1412602843	7:128,413,820	C/T	—	uncertain significance
rs1354426390	7:128,413,822	T/G	—	uncertain significance
rs369667942	7:128,413,825	C/T	—	uncertain significance
rs1296432717	7:128,413,826	G/A	—	likely benign
rs775611802	7:128,413,832	C/T	—	likely benign
rs1274758179	7:128,413,833	G/A	—	uncertain significance
rs141167245	7:128,413,834	C/T	—	uncertain significance
rs144995754	7:128,413,835	G/A	—	likely benign
rs1225866702	7:128,413,837	A/G	—	uncertain significance
rs104894033	7:128,413,840	G/A	missense variant	pathogenic
rs2128885781	7:128,413,841	C/T	—	likely benign
rs372964467	7:128,413,844	G/T	—	uncertain significance
rs190617412	7:128,413,856	G/T	—	uncertain significance
rs2128885791	7:128,413,863	C/A	—	uncertain significance
rs778625008	7:128,413,866	A/C	—	uncertain significance
rs138093200	7:128,413,867	C/G	—	uncertain significance
rs758082130	7:128,413,868	C/T	—	uncertain significance
rs1416118291	7:128,413,869	A/G	—	uncertain significance
rs2536289703	7:128,413,873	C/T	—	uncertain significance
rs1322930931	7:128,413,875	A/G	—	uncertain significance
rs1449582858	7:128,413,881	A/G	—	uncertain significance
rs777352208	7:128,413,884	C/T	—	conflicting classifications of pathogenicity
rs746544692	7:128,413,889	C/T	—	likely benign
rs771117831	7:128,413,897	G/A	—	uncertain significance
rs775599996	7:128,413,907	C/T	—	likely benign
rs376052530	7:128,413,913	C/T	—	likely benign
rs777541057	7:128,413,914	G/A	—	uncertain significance
rs769538354	7:128,413,916	A/C	—	likely benign
rs1239463905	7:128,413,918	C/T	—	uncertain significance
rs1432324882	7:128,413,930	G/A	—	uncertain significance
rs2128885823	7:128,413,931	C/A	—	uncertain significance
rs1801693872	7:128,413,933	G/A	—	uncertain significance
rs763022335	7:128,413,935	G/A	—	uncertain significance
rs965126698	7:128,413,936	C/T	—	uncertain significance
rs1801694142	7:128,413,941	A/G	—	uncertain significance
rs180902396	7:128,413,942	C/A	—	uncertain significance
rs2536289919	7:128,413,943	C/G	—	uncertain significance
rs1171975126	7:128,413,948	G/A	—	likely benign
rs200610158	7:128,413,955	A/G	—	benign
rs761929389	7:128,413,956	C/T	—	benign
rs145104722	7:128,413,957	G/A	—	likely benign
rs750959685	7:128,413,958	G/A	—	likely benign
rs113302345	7:128,414,541	A/G	—	likely benign
rs766939566	7:128,414,543	G/A	—	likely benign
rs541573349	7:128,414,544	C/A	—	likely benign
rs1801713398	7:128,414,550	A/G	—	uncertain significance
rs760023341	7:128,414,560	G/C	—	uncertain significance
rs2536290992	7:128,414,562	G/A	—	uncertain significance
rs182633734	7:128,414,563	C/T	—	uncertain significance
rs2536291006	7:128,414,565	C/T	—	uncertain significance
rs1554370107	7:128,414,567	C/G	—	likely benign
rs201738858	7:128,414,573	C/T	—	likely benign

Showing 100 of 243 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.