AHI1

Abelson helper integration site 1

Summary

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Known Variants1,256 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs75518881	6:135,605,099	A/G	—	uncertain significance
rs886061100	6:135,605,137	A/G	—	uncertain significance
rs969919726	6:135,605,215	T/A	—	uncertain significance
rs886061101	6:135,605,357	T/A	—	uncertain significance
rs149288894	6:135,605,379	T/C	—	uncertain significance
rs371457794	6:135,605,456	G/A	—	uncertain significance
rs886061102	6:135,605,466	T/C	—	uncertain significance
rs886061103	6:135,605,495	A/G	—	uncertain significance
rs557989991	6:135,605,637	A/T	—	uncertain significance
rs376956056	6:135,605,802	G/A	—	uncertain significance
rs191324834	6:135,605,990	T/C	—	uncertain significance
rs555215397	6:135,606,195	T/C	—	uncertain significance
rs1045439496	6:135,606,299	C/T	—	uncertain significance
rs886061106	6:135,606,336	A/T	—	uncertain significance
rs886061107	6:135,606,396	A/C	—	uncertain significance
rs1781561968	6:135,606,537	A/G	—	uncertain significance
rs1052502	6:135,606,565	G/A	—	benign
rs1781565852	6:135,606,567	C/T	—	uncertain significance
rs370861733	6:135,606,673	C/T	—	uncertain significance
rs536580823	6:135,606,703	G/A	—	uncertain significance
rs886061108	6:135,606,715	G/A	—	uncertain significance
rs9494209	6:135,606,755	C/G	—	likely benign
rs1421944327	6:135,606,756	G/C	—	likely benign
rs763438365	6:135,606,770	T/C	—	likely benign
rs755318468	6:135,606,782	T/G	—	uncertain significance
rs781417999	6:135,606,788	G/A	—	uncertain significance
rs864622110	6:135,606,790	A/G	—	likely benign
rs1217833599	6:135,606,796	A/G	—	likely benign
rs1274005225	6:135,606,799	T/C	—	likely benign
rs201034412	6:135,606,801	C/T	—	likely benign
rs11970282	6:135,606,891	T/C	—	benign
rs113719301	6:135,606,994	C/T	—	likely benign
rs73557663	6:135,611,351	C/T	—	benign
rs2482990088	6:135,611,543	T/A	—	likely benign
rs527546069	6:135,611,544	A/G	—	likely benign
rs1317619227	6:135,611,545	T/C	—	likely benign
rs370223538	6:135,611,546	T/A	—	likely benign
rs2482990162	6:135,611,550	T/G	—	likely benign
rs1201378560	6:135,611,552	T/C	—	likely benign
rs1782194096	6:135,611,559	A/T	—	uncertain significance
rs533296867	6:135,611,560	C/T	—	uncertain significance
rs201791936	6:135,611,561	C/T	—	uncertain significance
rs976929589	6:135,611,563	C/T	—	uncertain significance
rs776098993	6:135,611,566	T/C	—	uncertain significance
rs1337536400	6:135,611,567	T/C	—	likely benign
rs115338154	6:135,611,570	A/G	—	benign
rs1782196497	6:135,611,571	G/C	—	uncertain significance
rs2482990437	6:135,611,572	T/C	—	uncertain significance
rs1412680004	6:135,611,581	T/G	—	likely benign
rs2482990527	6:135,611,582	G/C	—	likely benign
rs759877397	6:135,611,585	T/C	—	likely benign
rs184236039	6:135,611,603	C/G	—	uncertain significance
rs1782201495	6:135,611,606	C/T	—	likely benign
rs200368187	6:135,611,607	C/T	—	conflicting classifications of pathogenicity
rs753932826	6:135,611,608	G/A	—	uncertain significance
rs188583221	6:135,611,614	C/A	—	conflicting classifications of pathogenicity
rs1179911051	6:135,611,639	G/A	—	likely benign
rs973295818	6:135,611,645	T/C	—	likely benign
rs199578341	6:135,611,646	T/C	—	conflicting classifications of pathogenicity
rs746858024	6:135,611,651	T/C	—	likely benign
rs1232167375	6:135,611,658	T/G	—	uncertain significance
rs1412515128	6:135,611,665	T/A	—	likely pathogenic
rs1333343554	6:135,611,666	A/G	—	uncertain significance
rs534053819	6:135,611,667	T/C	—	conflicting classifications of pathogenicity
rs1782211832	6:135,611,673	G/A	—	likely benign
rs776286276	6:135,611,674	G/A	—	likely benign
rs747598021	6:135,611,678	G/T	—	likely benign
rs79518333	6:135,621,479	G/A	—	benign
rs73776470	6:135,621,595	C/G	—	likely benign
rs4896141	6:135,621,600	C/G	—	benign
rs2483056557	6:135,621,620	T/C	—	likely benign
rs769540145	6:135,621,621	T/C	—	likely benign
rs2128350907	6:135,621,622	T/C	—	likely benign
rs777121594	6:135,621,630	T/C	—	likely benign
rs748866983	6:135,621,632	G/A	—	uncertain significance
rs202082310	6:135,621,639	G/A	—	uncertain significance
rs952789093	6:135,621,643	C/T	—	uncertain significance
rs200250333	6:135,621,645	T/C	—	conflicting classifications of pathogenicity
rs2483056902	6:135,621,652	T/G	—	likely benign
rs1262204877	6:135,621,656	C/A	—	uncertain significance
rs371975923	6:135,621,667	G/A	—	likely benign
rs765545542	6:135,621,670	C/G	—	uncertain significance
rs2483057207	6:135,621,673	G/A	—	likely benign
rs750439539	6:135,621,675	A/T	—	uncertain significance
rs763126846	6:135,621,683	T/C	—	conflicting classifications of pathogenicity
rs894163780	6:135,621,686	T/C	—	uncertain significance
rs766168872	6:135,621,690	T/C	—	uncertain significance
rs2483057480	6:135,621,691	T/C	—	likely benign
rs982379114	6:135,621,692	G/C	—	pathogenic
rs2483057578	6:135,621,697	C/T	—	likely pathogenic
rs754974434	6:135,621,702	G/A	—	likely benign
rs2483057645	6:135,621,704	A/C	—	likely benign
rs780951224	6:135,621,710	G/A	—	likely benign
rs184634760	6:135,626,366	T/C	regulatory region variant	—
rs6912933	6:135,627,534	G/C	—	—
rs373488220	6:135,632,426	C/T	—	benign
rs2483190567	6:135,637,137	G/A	—	likely benign
rs114874016	6:135,639,589	G/T	—	likely benign
rs766441368	6:135,639,637	G/T	—	likely benign
rs2483215553	6:135,639,639	A/G	—	likely benign

Showing 100 of 1,256 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.