CHST6

carbohydrate sulfotransferase 6

Summary

The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]

Known Variants266 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54198954816:75,507,074G/Abenign
rs88605229316:75,507,087C/Guncertain significance
rs1087131316:75,507,094T/Cbenign
rs7474211616:75,507,098G/Abenign
rs208003537116:75,507,228A/Guncertain significance
rs992383416:75,507,253T/Abenign
rs86748263616:75,507,331G/Auncertain significance
rs55401659716:75,507,342G/Alikely benign
rs208003632016:75,507,349A/Tuncertain significance
rs2871007516:75,507,352A/Cbenign
rs88605229416:75,507,356C/Tuncertain significance
rs100833435516:75,507,357G/Cuncertain significance
rs77737443016:75,507,389C/Tuncertain significance
rs19215152516:75,507,390G/Auncertain significance
rs54045387716:75,507,528C/Tuncertain significance
rs53243024616:75,507,558G/Auncertain significance
rs88605229516:75,507,569A/Guncertain significance
rs90727025216:75,507,597G/Auncertain significance
rs7674184816:75,507,659C/Tlikely benign
rs18411237516:75,507,790C/Auncertain significance
rs15010516916:75,507,934G/Abenign
rs75691914616:75,507,950G/Auncertain significance
rs53548735416:75,507,953A/Guncertain significance
rs57258613816:75,507,965C/Guncertain significance
rs13846688916:75,507,966G/Auncertain significance
rs95057415716:75,507,973T/Cuncertain significance
rs88605229616:75,508,042C/Tuncertain significance
rs208004240416:75,508,045C/Guncertain significance
rs18216864116:75,508,052G/Alikely benign
rs88605229716:75,508,069G/Auncertain significance
rs208004297116:75,508,079A/Cuncertain significance
rs104825070316:75,508,095T/Cuncertain significance
rs3760616:75,508,173A/Gbenign
rs145498148116:75,508,214T/Cuncertain significance
rs1164124916:75,508,234A/Gbenign
rs7278942016:75,508,248A/Guncertain significance
rs88605229816:75,508,249T/Guncertain significance
rs57027327716:75,508,301T/Cuncertain significance
rs11479023316:75,508,384G/Abenign
rs1291823416:75,508,453C/Tbenign
rs14446657916:75,508,454G/Auncertain significance
rs94254470216:75,508,536A/Guncertain significance
rs806334416:75,508,547A/Gbenign
rs105176482916:75,508,556C/Tuncertain significance
rs56452259316:75,508,592G/Auncertain significance
rs18074638416:75,508,622C/Tlikely benign
rs13811481116:75,508,656A/Clikely benign
rs5676961516:75,508,711T/Abenign
rs806306816:75,508,720G/Cbenign
rs56393919616:75,508,724C/Tuncertain significance
rs55247571416:75,508,725G/Cuncertain significance
rs77629469716:75,508,728T/Guncertain significance
rs14269360416:75,508,789G/Tbenign
rs5611609216:75,508,797A/Gbenign
rs88605229916:75,508,860A/Guncertain significance
rs208005172616:75,508,883G/Tuncertain significance
rs13990078816:75,508,918T/Cbenign
rs56076591016:75,508,931T/Guncertain significance
rs57623455116:75,508,937G/Auncertain significance
rs54064967616:75,508,992G/Auncertain significance
rs88605230016:75,509,023A/Guncertain significance
rs88605230116:75,509,049A/Guncertain significance
rs7647104616:75,509,074A/Gbenign
rs52953056616:75,509,098T/Auncertain significance
rs18997073016:75,509,175G/Tlikely benign
rs89102157516:75,509,242G/Auncertain significance
rs102240061916:75,509,299T/Cuncertain significance
rs15083958416:75,509,457C/Tuncertain significance
rs37511287516:75,509,461C/Tuncertain significance
rs55730767216:75,509,577C/Tuncertain significance
rs1186027816:75,509,583C/Tbenign
rs7608721516:75,509,584G/Alikely benign
rs11215470416:75,509,592C/Alikely benign
rs88605230316:75,509,703A/Guncertain significance
rs14998155616:75,509,706A/Cbenign
rs159746860216:75,509,769A/Cuncertain significance
rs54874875816:75,509,887G/Auncertain significance
rs14767583516:75,509,904C/Tuncertain significance
rs53465224816:75,510,036C/Tuncertain significance
rs76966856316:75,510,089G/Cuncertain significance
rs88605230416:75,510,102G/Auncertain significance
rs88605230516:75,510,106T/Guncertain significance
rs14261434916:75,510,113A/Glikely benign
rs18863292616:75,510,122G/Alikely benign
rs18505316:75,510,212A/Gbenign
rs14796047616:75,510,251A/Cbenign
rs11131569416:75,510,329G/Clikely benign
rs19258763216:75,510,408G/Auncertain significance
rs103708719416:75,510,489C/Tuncertain significance
rs719382816:75,510,515G/Cbenign
rs4296716:75,510,572G/Abenign
rs719403516:75,510,620G/Abenign
rs14376474716:75,510,625T/Clikely benign
rs144181648416:75,510,703C/Tuncertain significance
rs57709372416:75,510,728C/Tuncertain significance
rs11130779316:75,510,729G/Auncertain significance
rs57153781516:75,510,781T/Auncertain significance
rs117827062316:75,510,887C/Tuncertain significance
rs86654140016:75,510,942A/Cuncertain significance
rs88605230816:75,510,954C/Auncertain significance

Showing 100 of 266 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.