KL

klotho

Summary

This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]

Known Variants400 total

rsidPosition (GRCh37)AllelesClassClinVar
rs120756813:33,590,184G/Aregulatory region variant—
rs251656913:33,590,414G/A—benign
rs142546706413:33,590,582C/T—uncertain significance
rs117313573713:33,590,585G/T—uncertain significance
rs118559364713:33,590,590C/A—uncertain significance
rs93415327313:33,590,593C/T—conflicting classifications of pathogenicity
rs250169417613:33,590,598C/T—uncertain significance
rs91144702113:33,590,614G/A—likely benign
rs187033122313:33,590,616C/G—uncertain significance
rs123099889113:33,590,636C/G—uncertain significance
rs138589389613:33,590,658G/A—uncertain significance
rs52882695113:33,590,665C/T—likely benign
rs54080630013:33,590,669C/T—benign
rs118411649713:33,590,683G/A—likely benign
rs100133597113:33,590,698G/T—uncertain significance
rs134787134213:33,590,702T/C—uncertain significance
rs134234820013:33,590,704G/A—uncertain significance
rs76687238713:33,590,715C/T—uncertain significance
rs250169515613:33,590,716G/C—likely benign
rs20193659413:33,590,718G/A—benign
rs138276622413:33,590,721C/G—uncertain significance
rs118699380413:33,590,727C/T—uncertain significance
rs250169531113:33,590,733A/C—uncertain significance
rs250169536713:33,590,739C/T—uncertain significance
rs74900623413:33,590,769G/A—uncertain significance
rs213818216813:33,590,803G/A—likely benign
rs53249289713:33,590,828G/T—uncertain significance
rs119080924613:33,590,832A/G—uncertain significance
rs147775991213:33,590,835G/A—uncertain significance
rs120196250513:33,590,843A/C—uncertain significance
rs140428175713:33,590,845C/A—likely benign
rs277236413:33,590,851T/C—benign
rs120934740513:33,590,860C/A—likely benign
rs123336054313:33,590,868C/A—uncertain significance
rs76217752113:33,590,870C/T—likely benign
rs75462589113:33,590,877C/T—uncertain significance
rs75818011513:33,590,882G/C—uncertain significance
rs187035400513:33,590,894A/C—uncertain significance
rs86589192213:33,590,897G/T—uncertain significance
rs11551117813:33,590,898C/T—benign
rs3523977513:33,590,904T/G—benign
rs11681045113:33,590,905G/C—likely benign
rs97931779713:33,590,911G/C—uncertain significance
rs76118094813:33,590,915G/T—uncertain significance
rs135608330713:33,590,917C/T—likely benign
rs118083951313:33,590,926G/T—likely benign
rs118532459513:33,590,944G/T—likely benign
rs76492553013:33,590,947C/T—likely benign
rs116466298413:33,590,948G/A—uncertain significance
rs95928807613:33,590,957G/A—uncertain significance
rs37338533313:33,590,965C/T—likely benign
rs7955451213:33,590,971C/A—likely benign
rs74935603713:33,590,976T/A—uncertain significance
rs250169697413:33,590,981G/T—uncertain significance
rs14679803213:33,590,996C/T—uncertain significance
rs77903728213:33,590,997G/A—uncertain significance
rs77144702613:33,591,004C/G—uncertain significance
rs86831056213:33,591,020C/T—uncertain significance
rs137334931913:33,591,022C/G—likely benign
rs76499273213:33,591,028C/A—conflicting classifications of pathogenicity
rs187036895513:33,591,044G/C—uncertain significance
rs20021801013:33,591,054A/G—uncertain significance
rs250169739613:33,591,056G/A—uncertain significance
rs75721266813:33,591,063C/T—uncertain significance
rs37113155713:33,591,064G/A—likely benign
rs38790744413:33,591,075A/G—uncertain significance
rs20051742013:33,591,089C/A—conflicting classifications of pathogenicity
rs131283761013:33,591,092T/C—uncertain significance
rs250169772713:33,591,099G/C—uncertain significance
rs74643508513:33,591,113C/T—uncertain significance
rs213818342313:33,591,114G/A—uncertain significance
rs76929241213:33,591,115G/C—likely benign
rs77486923613:33,591,119C/G—uncertain significance
rs141034835113:33,591,120G/A—uncertain significance
rs187037690613:33,591,122G/T—uncertain significance
rs213818348913:33,591,128G/A—uncertain significance
rs76169569813:33,591,138C/T—uncertain significance
rs12190842313:33,591,156A/Gmissense variantpathogenic
rs75273700113:33,591,157C/T—likely benign
rs99085407913:33,591,159G/C—uncertain significance
rs117828152013:33,591,163C/T—likely benign
rs20006346013:33,591,173C/T—likely benign
rs11628967013:33,591,185G/T—likely benign
rs187038391513:33,591,189A/G—uncertain significance
rs20061145213:33,591,192G/A—conflicting classifications of pathogenicity
rs74872681813:33,591,216C/A—uncertain significance
rs38790744513:33,591,217C/G—likely benign
rs178431251913:33,591,222A/G—uncertain significance
rs187038795913:33,591,234A/T—uncertain significance
rs76735372613:33,591,238G/T—likely benign
rs75385029913:33,591,259C/T—likely benign
rs15105096913:33,591,262C/A—likely benign
rs250169885513:33,591,273A/T—uncertain significance
rs14104922913:33,591,287A/G—uncertain significance
rs75655141513:33,591,316C/T—likely benign
rs56301722713:33,591,325C/T—conflicting classifications of pathogenicity
rs134366902713:33,591,333G/A—uncertain significance
rs74986432813:33,591,339C/T—uncertain significance
rs76822119213:33,591,340C/T—likely benign
rs187039617513:33,591,342C/T—uncertain significance

Showing 100 of 400 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.