ANOS1

anosmin 1

Summary

Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]

Known Variants189 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs5978894	X:8,499,079	T/A	—	—
rs139805162	X:8,500,930	C/T	—	likely benign
rs184173877	X:8,500,976	G/A	—	benign
rs2146784839	X:8,501,040	T/C	—	uncertain significance
rs199771303	X:8,501,064	T/C	—	conflicting classifications of pathogenicity
rs41303179	X:8,501,120	C/A	—	benign
rs113863604	X:8,501,293	C/T	—	benign
rs111650570	X:8,501,328	C/T	—	likely benign
rs808125	X:8,501,639	T/A	intron variant	—
rs56051736	X:8,502,088	G/A	—	benign
rs776867068	X:8,502,389	G/T	—	uncertain significance
rs199652310	X:8,502,412	C/T	—	likely benign
rs375767556	X:8,502,423	C/T	—	likely benign
rs1929553838	X:8,502,436	C/T	—	likely benign
rs1057519418	X:8,502,440	T/G	missense variant	pathogenic
rs886039395	X:8,502,453	G/A	stop gained	pathogenic
rs1064796699	X:8,502,461	G/A	—	uncertain significance
rs1929555187	X:8,502,473	A/C	—	uncertain significance
rs141134357	X:8,502,492	C/T	—	uncertain significance
rs111706504	X:8,502,707	A/G	—	likely benign
rs112917758	X:8,503,505	A/C	—	likely benign
rs1601944671	X:8,503,623	G/A	—	likely benign
rs2518467114	X:8,503,636	G/A	—	uncertain significance
rs809446	X:8,503,641	G/A	—	benign
rs1374828050	X:8,503,648	G/T	—	likely benign
rs763626643	X:8,503,651	T/A	—	conflicting classifications of pathogenicity
rs2518467195	X:8,503,679	T/C	—	uncertain significance
rs375373285	X:8,503,692	C/T	—	benign
rs1929577517	X:8,503,707	C/T	—	likely pathogenic
rs2146786648	X:8,503,708	C/T	—	pathogenic
rs137900287	X:8,503,715	C/A	—	likely benign
rs2146786666	X:8,503,718	G/A	—	pathogenic
rs368339876	X:8,503,729	A/G	—	likely benign
rs369322187	X:8,503,730	T/C	—	uncertain significance
rs2518467243	X:8,503,731	G/A	—	likely benign
rs2518467245	X:8,503,738	T/C	—	uncertain significance
rs1929579074	X:8,503,770	G/T	—	uncertain significance
rs142455173	X:8,503,775	C/T	—	conflicting classifications of pathogenicity
rs145982109	X:8,503,776	G/A	—	likely benign
rs2229013	X:8,503,796	C/T	missense variant	pathogenic
rs77296423	X:8,503,832	G/A	—	benign
rs149299309	X:8,503,847	C/T	—	likely benign
rs17306755	X:8,504,652	T/C	—	benign
rs144586521	X:8,504,818	C/A	stop gained	pathogenic
rs808119	X:8,504,833	C/T	—	conflicting classifications of pathogenicity
rs2518468051	X:8,504,835	G/A	—	uncertain significance
rs751384764	X:8,504,866	A/G	—	uncertain significance
rs137852515	X:8,504,893	C/T	missense variant	pathogenic
rs1449749900	X:8,504,897	C/T	—	conflicting classifications of pathogenicity
rs142729431	X:8,504,901	G/T	—	benign
rs201842998	X:8,504,917	G/A	—	conflicting classifications of pathogenicity
rs765611622	X:8,504,922	G/A	—	benign
rs111544601	X:8,507,581	C/T	—	likely benign
rs776724132	X:8,507,697	G/T	—	likely benign
rs397518425	X:8,507,703	—	—	pathogenic
rs1601946139	X:8,507,704	C/T	—	pathogenic
rs766699880	X:8,507,726	C/A	—	uncertain significance
rs755569301	X:8,507,734	C/T	—	conflicting classifications of pathogenicity
rs781745609	X:8,507,735	G/A	—	likely benign
rs1442558849	X:8,507,747	G/C	—	uncertain significance
rs372915443	X:8,507,772	C/T	—	likely benign
rs144709908	X:8,507,773	G/A	—	conflicting classifications of pathogenicity
rs727505374	X:8,507,785	G/A	stop gained	pathogenic
rs2518469618	X:8,507,800	C/A	—	likely pathogenic
rs2518469625	X:8,507,809	C/T	—	uncertain significance
rs1639119	X:8,508,062	C/T	—	benign
rs2146796763	X:8,522,036	C/T	—	likely benign
rs1380651522	X:8,522,040	T/C	—	uncertain significance
rs757033333	X:8,522,054	G/A	—	benign
rs376164390	X:8,522,063	C/T	—	likely benign
rs148736113	X:8,522,064	G/A	—	likely benign
rs371623420	X:8,522,068	G/A	—	uncertain significance
rs747010865	X:8,522,077	G/A	—	pathogenic
rs1555893221	X:8,522,080	G/A	—	pathogenic
rs1349634113	X:8,522,097	T/C	—	uncertain significance
rs2146796828	X:8,522,098	G/A	—	pathogenic
rs1286191530	X:8,522,104	G/T	—	uncertain significance
rs190618510	X:8,522,137	C/T	—	uncertain significance
rs1160656591	X:8,522,159	T/C	—	likely benign
rs141456772	X:8,522,257	C/T	—	benign
rs150571687	X:8,522,258	G/A	—	likely benign
rs137852517	X:8,536,293	G/A	missense variant	uncertain significance
rs771106832	X:8,536,301	G/C	—	uncertain significance
rs777132740	X:8,536,337	T/A	—	benign
rs149213654	X:8,536,346	C/T	—	likely benign
rs1930157931	X:8,536,368	A/G	—	uncertain significance
rs1490275516	X:8,536,369	C/T	—	uncertain significance
rs2518482273	X:8,536,371	T/C	—	uncertain significance
rs772156018	X:8,536,395	T/C	—	uncertain significance
rs2146805381	X:8,536,418	C/G	—	pathogenic
rs146645473	X:8,538,412	G/A	—	benign
rs2302353	X:8,538,443	C/A	—	benign
rs2146807050	X:8,538,535	C/T	—	conflicting classifications of pathogenicity
rs387906427	X:8,538,539	C/A	—	pathogenic
rs751290377	X:8,538,546	C/T	—	benign
rs143406724	X:8,538,559	C/T	—	uncertain significance
rs2146807121	X:8,538,590	T/C	—	uncertain significance
rs137879324	X:8,538,633	G/C	—	conflicting classifications of pathogenicity
rs555915218	X:8,538,639	C/T	—	likely benign
rs1414831170	X:8,538,640	G/A	—	uncertain significance

Showing 100 of 189 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.