SIX6

SIX homeobox 6

Summary

The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]

Known Variants111 total

rsidPosition (GRCh37)AllelesClassClinVar
rs53111083714:60,975,943C/G—uncertain significance
rs195655814:60,975,956T/C—benign
rs53866169514:60,975,968C/T—likely benign
rs55186463714:60,975,970T/C—likely benign
rs88605056214:60,976,003G/A—uncertain significance
rs14859152814:60,976,053C/T—likely benign
rs37281105214:60,976,126C/A—uncertain significance
rs74756312114:60,976,128G/C—likely benign
rs15071522614:60,976,134C/A—conflicting classifications of pathogenicity
rs6174641014:60,976,137G/A—likely benign
rs250360486714:60,976,150C/A—uncertain significance
rs57704341814:60,976,181A/T—uncertain significance
rs57262562114:60,976,191C/A—likely benign
rs75353043214:60,976,192G/A—uncertain significance
rs129613603614:60,976,207G/C—uncertain significance
rs75679878714:60,976,212C/T—uncertain significance
rs250360506614:60,976,221G/A—likely pathogenic
rs78620485114:60,976,226T/Cmissense variantpathogenic
rs18539951014:60,976,230C/T—likely benign
rs103275313414:60,976,237C/T—uncertain significance
rs14988432714:60,976,239T/C—likely benign
rs250360515614:60,976,240G/A—uncertain significance
rs98843466114:60,976,251G/C—uncertain significance
rs250360523214:60,976,261A/G—uncertain significance
rs77104668314:60,976,271C/G—uncertain significance
rs189325815714:60,976,278A/C—likely benign
rs214018782514:60,976,287A/G—likely benign
rs20183892214:60,976,290C/T—likely benign
rs250360539214:60,976,301T/G—uncertain significance
rs20184651014:60,976,332T/A—uncertain significance
rs118408657114:60,976,359G/A—likely benign
rs145984436214:60,976,381G/A—uncertain significance
rs189326061614:60,976,383G/A—likely benign
rs250360566414:60,976,395A/G—likely benign
rs14337152014:60,976,410G/A—likely benign
rs123741310514:60,976,424G/T—uncertain significance
rs250360575114:60,976,430G/C—uncertain significance
rs116032825614:60,976,443T/C—likely benign
rs250360582014:60,976,449C/T—likely benign
rs250360583714:60,976,456C/T—uncertain significance
rs74700305114:60,976,485C/T—likely benign
rs250360595014:60,976,492T/C—uncertain significance
rs14673784714:60,976,501G/Amissense variantpathogenic
rs36771452814:60,976,505A/G—uncertain significance
rs250360605114:60,976,523A/C—uncertain significance
rs214018807214:60,976,526A/C—uncertain significance
rs3391234514:60,976,537C/Amissense variantbenign
rs250360613814:60,976,543C/T—likely benign
rs75776958514:60,976,548C/T—likely benign
rs76131221414:60,976,551G/A—likely benign
rs189326361414:60,976,559T/G—uncertain significance
rs189326365214:60,976,562A/G—uncertain significance
rs74961784814:60,976,589A/C—conflicting classifications of pathogenicity
rs250360627114:60,976,591C/A—uncertain significance
rs131570807214:60,976,592G/A—uncertain significance
rs10489448014:60,976,609A/Gmissense variantuncertain significance
rs77988764614:60,976,612G/C—uncertain significance
rs189326454914:60,976,619C/T—uncertain significance
rs132090018514:60,976,623T/C—likely benign
rs250360641114:60,976,631T/C—uncertain significance
rs250360642514:60,976,637A/G—uncertain significance
rs78620514214:60,976,648——pathogenic
rs7897872614:60,976,649A/C—uncertain significance
rs159463158214:60,976,663G/C—pathogenic
rs74807775114:60,976,665C/G—likely pathogenic
rs122640293914:60,976,696C/T—likely benign
rs129188436614:60,976,698T/C—likely benign
rs55216595914:60,976,701A/G—likely benign
rs20053744914:60,976,703G/A—conflicting classifications of pathogenicity
rs5609860514:60,977,618G/A—benign
rs91636503714:60,977,792T/C—likely benign
rs77075992214:60,977,796C/G—conflicting classifications of pathogenicity
rs250360950814:60,977,797C/G—likely benign
rs74549640614:60,977,808G/C—uncertain significance
rs250360958514:60,977,820G/C—likely benign
rs77332578014:60,977,832C/T—likely benign
rs88605056314:60,977,836C/T—uncertain significance
rs20199101214:60,977,837G/A—uncertain significance
rs4554924614:60,977,843T/G—conflicting classifications of pathogenicity
rs14811886914:60,977,845C/G—uncertain significance
rs14091612414:60,977,850G/A—likely benign
rs103730874614:60,977,853G/A—likely benign
rs77842261414:60,977,856C/T—likely benign
rs20202991514:60,977,864C/T—uncertain significance
rs14060142714:60,977,865G/C—conflicting classifications of pathogenicity
rs20156065514:60,977,866C/T—conflicting classifications of pathogenicity
rs36891293014:60,977,880C/T—conflicting classifications of pathogenicity
rs75974507914:60,977,881G/A—uncertain significance
rs3478751414:60,977,883C/T—likely benign
rs250360991414:60,977,890A/T—uncertain significance
rs95874586414:60,977,920G/A—uncertain significance
rs77835077014:60,977,924C/T—uncertain significance
rs75803258214:60,977,934C/T—likely benign
rs138179817614:60,977,939T/C—uncertain significance
rs77977614214:60,977,943G/T—uncertain significance
rs74662334514:60,977,954G/T—uncertain significance
rs77014896314:60,977,955C/T—uncertain significance
rs250361013214:60,977,956G/A—uncertain significance
rs118416924414:60,977,959T/C—uncertain significance
rs76391814814:60,977,960G/A—uncertain significance

Showing 100 of 111 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.