COL11A1

collagen type XI alpha 1 chain

Summary

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

Known Variants2,238 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1649521098	1:103,342,040	T/G	—	uncertain significance
rs886044968	1:103,342,087	C/G	—	uncertain significance
rs139810625	1:103,342,253	C/T	—	likely benign
rs1282780058	1:103,342,274	A/G	—	uncertain significance
rs886044969	1:103,342,336	A/G	—	uncertain significance
rs1343503479	1:103,342,345	C/T	—	uncertain significance
rs538679983	1:103,342,348	A/T	—	conflicting classifications of pathogenicity
rs190577885	1:103,342,372	T/C	—	conflicting classifications of pathogenicity
rs9659030	1:103,342,392	C/T	—	benign
rs12073619	1:103,342,470	G/A	—	benign
rs41292523	1:103,342,484	T/A	—	likely benign
rs1649568241	1:103,342,493	C/T	—	uncertain significance
rs886044970	1:103,342,622	C/G	—	uncertain significance
rs1649591440	1:103,342,674	A/G	—	uncertain significance
rs562885468	1:103,342,699	C/T	—	uncertain significance
rs143875783	1:103,342,766	G/A	—	conflicting classifications of pathogenicity
rs886044971	1:103,342,860	T/C	—	uncertain significance
rs74108028	1:103,342,871	A/G	—	likely benign
rs186072680	1:103,342,888	G/A	—	likely benign
rs74108029	1:103,342,943	C/T	—	likely benign
rs536837264	1:103,342,996	T/C	—	uncertain significance
rs778002512	1:103,343,040	T/G	—	uncertain significance
rs3088150	1:103,343,067	C/T	—	uncertain significance
rs563094116	1:103,343,089	A/G	—	uncertain significance
rs776415474	1:103,343,149	T/C	—	uncertain significance
rs12731575	1:103,343,274	C/T	—	benign
rs886044972	1:103,343,335	T/C	—	uncertain significance
rs1400606980	1:103,343,391	T/C	—	uncertain significance
rs1031820	1:103,343,470	G/A	—	benign
rs766361433	1:103,343,535	G/T	—	uncertain significance
rs190728953	1:103,343,558	T/C	—	conflicting classifications of pathogenicity
rs371551881	1:103,343,566	G/C	—	conflicting classifications of pathogenicity
rs2524142999	1:103,343,575	T/C	—	likely benign
rs1318436219	1:103,343,576	T/C	—	likely benign
rs779088327	1:103,343,582	A/T	—	conflicting classifications of pathogenicity
rs747838552	1:103,343,584	A/T	—	uncertain significance
rs546905537	1:103,343,586	A/G	—	uncertain significance
rs1247463879	1:103,343,594	G/A	—	uncertain significance
rs772836164	1:103,343,595	G/C	—	conflicting classifications of pathogenicity
rs958368134	1:103,343,598	C/T	—	uncertain significance
rs1478223213	1:103,343,606	A/C	—	uncertain significance
rs925433052	1:103,343,610	C/T	—	uncertain significance
rs770392400	1:103,343,611	G/A	—	likely benign
rs1351190778	1:103,343,624	T/C	—	conflicting classifications of pathogenicity
rs2524143716	1:103,343,636	T/A	—	uncertain significance
rs144510951	1:103,343,637	C/T	—	conflicting classifications of pathogenicity
rs765097661	1:103,343,641	G/T	—	likely benign
rs2524144000	1:103,343,653	A/C	—	likely benign
rs2524144110	1:103,343,665	T/G	—	uncertain significance
rs762806617	1:103,343,667	G/C	—	conflicting classifications of pathogenicity
rs2524144213	1:103,343,670	C/G	—	uncertain significance
rs532113782	1:103,343,671	A/G	—	likely benign
rs1649729602	1:103,343,673	T/G	—	uncertain significance
rs750652823	1:103,343,679	G/T	—	likely benign
rs1195447527	1:103,343,684	T/C	—	likely benign
rs1036630733	1:103,343,692	A/G	—	likely benign
rs1475376265	1:103,343,693	A/T	—	uncertain significance
rs1557764324	1:103,343,700	T/A	—	uncertain significance
rs756303349	1:103,343,704	T/G	—	uncertain significance
rs1649734700	1:103,343,705	T/C	—	uncertain significance
rs1649735346	1:103,343,708	T/C	—	uncertain significance
rs766529064	1:103,343,712	C/T	—	uncertain significance
rs2524144840	1:103,343,716	T/A	—	uncertain significance
rs2100996694	1:103,343,719	G/T	—	likely benign
rs200949243	1:103,343,730	T/G	—	conflicting classifications of pathogenicity
rs748518624	1:103,343,736	A/G	—	uncertain significance
rs2524145124	1:103,343,737	G/A	—	likely benign
rs1649739290	1:103,343,741	T/C	—	likely benign
rs116234463	1:103,343,899	T/G	—	likely benign
rs12133288	1:103,344,016	T/A	—	likely benign
rs112796729	1:103,344,978	T/C	—	benign
rs11164627	1:103,345,142	G/A	—	benign
rs763949861	1:103,345,223	C/G	—	likely benign
rs576956216	1:103,345,228	C/G	—	likely benign
rs766582160	1:103,345,232	T/C	—	likely benign
rs753930720	1:103,345,235	T/G	—	uncertain significance
rs771530834	1:103,345,239	C/T	—	uncertain significance
rs202065765	1:103,345,240	G/A	—	uncertain significance
rs778059956	1:103,345,252	T/C	—	likely benign
rs1350002806	1:103,345,255	A/T	—	uncertain significance
rs2524160748	1:103,345,263	G/A	—	likely benign
rs2101006645	1:103,345,264	A/G	—	uncertain significance
rs2101006660	1:103,345,266	A/G	—	likely benign
rs2101006692	1:103,345,270	G/T	—	uncertain significance
rs2101006723	1:103,345,275	A/C	—	uncertain significance
rs780895611	1:103,345,276	T/C	—	likely benign
rs2524160946	1:103,345,278	G/C	—	uncertain significance
rs769329430	1:103,345,282	T/C	—	conflicting classifications of pathogenicity
rs370598483	1:103,345,290	C/G	—	conflicting classifications of pathogenicity
rs768596501	1:103,345,291	T/G	—	likely benign
rs1177996327	1:103,345,292	C/T	—	benign
rs1410685406	1:103,345,293	C/G	—	uncertain significance
rs1649991518	1:103,345,295	C/G	—	uncertain significance
rs140250347	1:103,345,315	C/T	—	conflicting classifications of pathogenicity
rs761693797	1:103,345,316	G/A	—	likely benign
rs924463224	1:103,345,322	C/A	—	uncertain significance
rs1258724777	1:103,345,326	G/A	—	likely benign
rs2524161572	1:103,345,327	T/C	—	uncertain significance
rs2524161677	1:103,345,334	T/G	—	uncertain significance
rs1649995568	1:103,345,340	A/T	—	uncertain significance

Showing 100 of 2,238 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.