COL9A3

collagen type IX alpha 3 chain

Summary

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]

Known Variants1,191 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75130922520:61,448,398G/T—likely benign
rs93183317420:61,448,421C/A—uncertain significance
rs78094176520:61,448,423G/C—uncertain significance
rs214719290820:61,448,426C/G—uncertain significance
rs74940129020:61,448,427C/T—uncertain significance
rs89039922120:61,448,429C/T—uncertain significance
rs251601564220:61,448,431C/T—likely benign
rs214719292720:61,448,433C/T—uncertain significance
rs124722806120:61,448,434G/T—likely benign
rs77093016120:61,448,435T/A—likely benign
rs130633088420:61,448,437C/T—likely benign
rs122670269620:61,448,438G/A—uncertain significance
rs199095118320:61,448,439C/T—uncertain significance
rs139105605820:61,448,441C/T—uncertain significance
rs77911670120:61,448,442C/T—uncertain significance
rs125196893820:61,448,443G/T—likely benign
rs74614291220:61,448,444C/G—uncertain significance
rs118230017320:61,448,449G/A—likely benign
rs141585699120:61,448,454T/C—uncertain significance
rs77217714720:61,448,455G/C—likely benign
rs116908913520:61,448,456C/G—uncertain significance
rs146677725920:61,448,459C/T—likely benign
rs251601584420:61,448,462C/T—uncertain significance
rs90600299220:61,448,464C/G—likely benign
rs144919906820:61,448,465G/C—uncertain significance
rs229498420:61,448,466G/A—benign
rs76923141020:61,448,467G/A—likely benign
rs126274612020:61,448,473T/A—likely benign
rs251601593120:61,448,474C/A—uncertain significance
rs199095422520:61,448,476G/A—likely benign
rs251601596020:61,448,478C/A—uncertain significance
rs87957074920:61,448,479G/A—likely benign
rs77724098720:61,448,488G/A—conflicting classifications of pathogenicity
rs251601603720:61,448,489G/A—uncertain significance
rs126386641920:61,448,490C/A—uncertain significance
rs199095520820:61,448,492C/A—uncertain significance
rs103593231720:61,448,493A/C—uncertain significance
rs76141790320:61,448,500C/T—likely benign
rs138420968620:61,448,512G/T—likely benign
rs37360955720:61,448,590C/T—likely benign
rs37643889720:61,448,788A/G—likely benign
rs88605690520:61,448,905T/G—likely benign
rs101469923020:61,448,908C/T—likely benign
rs142329528420:61,448,910C/G—likely benign
rs20015529620:61,448,912G/A—likely benign
rs143875368220:61,448,915T/G—likely benign
rs251601768120:61,448,916C/T—uncertain significance
rs251601768620:61,448,917A/G—uncertain significance
rs99469057820:61,448,918G/A—uncertain significance
rs127800028320:61,448,920G/C—uncertain significance
rs102754711420:61,448,922G/A—uncertain significance
rs251601770320:61,448,925G/A—uncertain significance
rs95861254020:61,448,926G/T—uncertain significance
rs105622847920:61,448,931C/T—uncertain significance
rs227307820:61,448,933A/C—benign
rs55044832020:61,448,935G/A—uncertain significance
rs101041670020:61,448,936C/T—likely benign
rs74591466220:61,448,937C/A—uncertain significance
rs104234574420:61,448,938C/A—uncertain significance
rs77238743320:61,448,939C/A—likely benign
rs128864160720:61,448,941C/G—uncertain significance
rs156874626120:61,448,942C/T—likely benign
rs145164277520:61,448,943G/A—uncertain significance
rs139073636120:61,448,944G/A—uncertain significance
rs123080291920:61,448,945C/A—likely benign
rs97789809120:61,448,949C/T—uncertain significance
rs37360576120:61,448,950C/T—conflicting classifications of pathogenicity
rs199097460220:61,448,951A/G—likely benign
rs88604433320:61,448,953G/C—uncertain significance
rs199097485320:61,448,954G/A—likely benign
rs102898281620:61,448,956C/G—uncertain significance
rs77343578820:61,448,957G/T—likely benign
rs74743263620:61,448,958C/T—uncertain significance
rs100889996720:61,448,962G/C—uncertain significance
rs53902361820:61,448,965A/T—uncertain significance
rs227307920:61,448,969C/T—benign
rs77064993820:61,448,970G/T—uncertain significance
rs102796757120:61,448,976G/C—uncertain significance
rs116797282120:61,448,977A/G—uncertain significance
rs199097738420:61,448,985G/A—uncertain significance
rs214719404920:61,448,988G/A—uncertain significance
rs137093070520:61,448,994T/A—likely benign
rs105132628320:61,448,996G/T—likely benign
rs76247220020:61,448,997G/C—likely benign
rs77042273620:61,448,998G/A—likely benign
rs251601817120:61,448,999G/A—likely benign
rs251601819820:61,449,004G/T—likely benign
rs199097845220:61,449,007G/A—likely benign
rs11454164220:61,449,038G/T—benign
rs227308020:61,449,057C/T—benign
rs4557644220:61,449,122C/T—likely benign
rs227308120:61,449,141A/G—benign
rs11229293620:61,449,153G/A—likely benign
rs54623569020:61,449,202C/T—likely benign
rs53587683620:61,449,206G/A—likely benign
rs37645752620:61,449,575G/T—likely benign
rs251602075120:61,449,851T/G—likely benign
rs77028470120:61,449,853G/A—likely benign
rs77389802020:61,449,854G/T—likely benign
rs20175266120:61,449,855T/C—benign

Showing 100 of 1,191 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.