NOS3

nitric oxide synthase 3

Summary

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

Known Variants156 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11771443	7:150,687,687	C/T	regulatory region variant	—
rs1800783	7:150,689,397	A/T	intron variant	—
rs1800779	7:150,689,943	G/A	regulatory region variant	—
rs2070744	7:150,690,079	C/T	regulatory region variant	benign
rs3918226	7:150,690,176	C/T	regulatory region variant	—
rs752889752	7:150,690,915	C/T	—	likely benign
rs757589399	7:150,690,926	G/A	—	uncertain significance
rs199642317	7:150,690,969	C/T	—	likely benign
rs1802310466	7:150,691,012	G/T	—	uncertain significance
rs755710890	7:150,691,037	C/T	—	uncertain significance
rs752309888	7:150,692,304	C/T	—	likely pathogenic
rs1007320995	7:150,692,357	G/C	—	uncertain significance
rs754267661	7:150,692,359	T/C	—	uncertain significance
rs181242083	7:150,692,411	G/A	—	likely benign
rs1800781	7:150,692,444	G/A	—	benign
rs11974098	7:150,693,430	C/G	—	benign
rs746179519	7:150,693,485	G/T	—	likely benign
rs971095296	7:150,693,492	G/A	—	uncertain significance
rs1802424536	7:150,693,505	C/T	—	uncertain significance
rs1404768705	7:150,693,513	C/T	—	uncertain significance
rs3918166	7:150,693,556	G/A	—	benign
rs2486205242	7:150,693,589	T/C	—	uncertain significance
rs767114986	7:150,693,592	T/G	—	uncertain significance
rs149224629	7:150,693,598	A/T	—	uncertain significance
rs143324164	7:150,693,603	C/T	—	uncertain significance
rs148359917	7:150,693,604	G/A	—	benign
rs200774720	7:150,693,896	C/G	—	likely benign
rs765854160	7:150,693,936	G/A	—	likely pathogenic
rs145711802	7:150,693,947	C/A	—	uncertain significance
rs746609536	7:150,693,951	G/A	—	likely benign
rs763096145	7:150,695,470	C/A	—	uncertain significance
rs1217772298	7:150,695,491	A/G	—	uncertain significance
rs753279569	7:150,695,531	C/G	—	uncertain significance
rs759150325	7:150,695,648	G/A	—	likely benign
rs1794784225	7:150,695,656	G/T	—	uncertain significance
rs1224918607	7:150,695,706	G/T	—	uncertain significance
rs1549758	7:150,695,726	T/C	—	benign
rs552165450	7:150,695,728	G/A	—	uncertain significance
rs527753775	7:150,695,729	C/G	—	likely benign
rs1238625822	7:150,695,742	G/T	—	uncertain significance
rs35281220	7:150,695,753	C/T	—	likely benign
rs771485624	7:150,695,777	C/T	—	likely benign
rs201382540	7:150,695,778	G/A	—	likely benign
rs1007311	7:150,696,008	G/A	—	benign
rs9282803	7:150,696,066	C/T	—	benign
rs139184126	7:150,696,067	G/A	—	uncertain significance
rs374834315	7:150,696,071	G/A	—	uncertain significance
rs149539813	7:150,696,076	G/A	—	benign
rs9282804	7:150,696,078	C/T	—	benign
rs1799983	7:150,696,111	T/G	missense variant	pathogenic
rs1221724980	7:150,696,136	C/G	—	uncertain significance
rs369489094	7:150,696,139	G/A	—	uncertain significance
rs149255032	7:150,696,271	C/T	—	benign
rs756737838	7:150,696,284	G/A	—	likely benign
rs184222022	7:150,696,303	C/T	—	likely benign
rs1795021746	7:150,696,373	C/T	—	uncertain significance
rs144439682	7:150,696,461	C/T	—	likely benign
rs1541861	7:150,697,333	C/A	intron variant	benign
rs73472536	7:150,697,387	G/A	—	benign
rs1795065724	7:150,697,601	A/C	—	uncertain significance
rs758240936	7:150,697,664	G/A	—	uncertain significance
rs1012519236	7:150,698,336	C/T	—	likely benign
rs953325985	7:150,698,337	G/A	—	uncertain significance
rs150935488	7:150,698,349	G/A	—	likely benign
rs534664057	7:150,698,351	C/T	—	likely benign
rs141089940	7:150,698,352	G/A	—	benign
rs578101703	7:150,698,356	C/T	—	uncertain significance
rs765452417	7:150,698,498	G/A	—	likely benign
rs764271277	7:150,698,506	G/A	—	uncertain significance
rs1795098841	7:150,698,666	C/T	—	uncertain significance
rs138269110	7:150,698,667	C/G	—	likely benign
rs1800780	7:150,698,879	A/G	intron variant	benign
rs745693447	7:150,698,905	G/A	—	likely benign
rs774609359	7:150,698,913	G/A	—	uncertain significance
rs765572803	7:150,698,965	C/T	—	uncertain significance
rs370755105	7:150,699,008	C/T	—	likely benign
rs1800782	7:150,699,250	G/T	—	benign
rs147410968	7:150,699,296	T/C	—	likely benign
rs1381235367	7:150,699,347	G/A	—	likely benign
rs1584905730	7:150,699,353	C/T	—	likely benign
rs75528901	7:150,699,611	C/G	—	benign
rs2853792	7:150,699,877	G/A	intron variant	—
rs540303944	7:150,700,240	G/A	—	uncertain significance
rs79467411	7:150,700,291	A/G	—	benign
rs73167652	7:150,700,637	A/G	—	benign
rs3918227	7:150,700,946	C/A	regulatory region variant	benign
rs3918181	7:150,701,783	G/A	intron variant	—
rs3918188	7:150,702,781	C/T	—	—
rs2853795	7:150,703,242	A/G	intron variant	—
rs775196686	7:150,703,570	C/T	—	uncertain significance
rs2853796	7:150,703,915	G/T	intron variant	benign
rs761088789	7:150,704,198	T/C	—	uncertain significance
rs2117128337	7:150,704,203	G/A	—	uncertain significance
rs7792133	7:150,704,246	G/A	—	benign
rs2566514	7:150,704,250	C/G	—	benign
rs775113682	7:150,704,373	A/G	—	likely benign
rs3730305	7:150,704,400	A/C	—	benign
rs3918196	7:150,705,842	A/G	—	benign
rs148909379	7:150,706,014	G/A	—	likely benign
rs2486240514	7:150,706,025	G/C	—	uncertain significance

Showing 100 of 156 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.