ANKS6

ankyrin repeat and sterile alpha motif domain containing 6

Summary

This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]

Known Variants349 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3375859:101,498,539T/A—likely benign
rs107604799:101,498,564G/C—benign
rs756900659:101,498,602G/A—likely benign
rs613836039:101,498,609T/C—benign
rs1153372949:101,498,761G/A—benign
rs3733057959:101,498,784G/T—likely benign
rs7538485059:101,498,802C/T—likely benign
rs3762689789:101,498,804C/T—likely benign
rs10472252929:101,498,805G/A—uncertain significance
rs1998511779:101,498,824G/A—conflicting classifications of pathogenicity
rs7805543879:101,498,839T/C—uncertain significance
rs2006440589:101,498,853A/G—conflicting classifications of pathogenicity
rs24903198919:101,498,883T/G—uncertain significance
rs7680885169:101,498,901C/T—uncertain significance
rs3975142589:101,498,907T/G—pathogenic
rs5326294769:101,507,589G/A—likely benign
rs3775483079:101,507,835C/T—uncertain significance
rs21319335409:101,507,838T/C—uncertain significance
rs7651647979:101,507,849C/T—uncertain significance
rs2019587649:101,507,850G/A—likely benign
rs21319335609:101,507,854A/C—uncertain significance
rs7586793999:101,507,865C/T—likely benign
rs15641777679:101,507,879G/A—uncertain significance
rs7772035699:101,507,919G/A—likely benign
rs3737567719:101,507,943C/T—likely benign
rs7755107689:101,507,964A/G—likely benign
rs7686324169:101,507,969G/T—likely benign
rs13070978849:101,507,971G/A—likely benign
rs1800399:101,513,064G/C—benign
rs12848061649:101,513,296A/G—likely benign
rs5597602009:101,513,303A/G—likely benign
rs8971289939:101,513,310C/T—likely pathogenic
rs24903498709:101,513,315T/C—uncertain significance
rs2015151419:101,513,332C/A—uncertain significance
rs7797787189:101,513,333T/C—uncertain significance
rs15883390629:101,513,344A/T—likely benign
rs1461610909:101,513,362G/A—likely benign
rs7695067229:101,513,374T/G—uncertain significance
rs3722653109:101,513,378T/C—uncertain significance
rs24903499859:101,513,382C/T—likely benign
rs794979969:101,513,483A/G—likely benign
rs799803719:101,513,567C/T—likely benign
rs5808099:101,518,442C/T—benign
rs1478660909:101,518,571A/G—likely benign
rs6928249:101,518,677G/T—benign
rs24903611459:101,518,703C/T—uncertain significance
rs3767442699:101,518,704T/A—uncertain significance
rs7659751919:101,518,707T/C—uncertain significance
rs1814567099:101,518,718G/A—likely benign
rs7479102579:101,518,739G/A—likely benign
rs14400450289:101,518,741T/C—uncertain significance
rs24903612139:101,518,748C/A—uncertain significance
rs7776400199:101,518,755T/A—uncertain significance
rs2002469599:101,518,757G/A—likely benign
rs3734085289:101,518,758G/C—uncertain significance
rs1997226849:101,518,761G/A—uncertain significance
rs5663720739:101,518,763C/G—likely benign
rs3702300039:101,518,764G/A—uncertain significance
rs2022447169:101,518,795C/T—uncertain significance
rs2006733119:101,518,803G/A—uncertain significance
rs7671385879:101,518,808G/A—likely benign
rs1997616929:101,518,814C/T—likely benign
rs794145509:101,518,825G/C—likely benign
rs2014197839:101,518,831T/G—uncertain significance
rs7690464929:101,518,851G/A—uncertain significance
rs18327208329:101,518,860G/A—uncertain significance
rs18327215469:101,518,871G/T—uncertain significance
rs7635883179:101,518,895A/G—conflicting classifications of pathogenicity
rs3760488739:101,518,900A/G—likely benign
rs788580559:101,518,922C/A—likely benign
rs1170488769:101,519,120G/A—likely benign
rs7550655729:101,530,343A/C—likely benign
rs5457519559:101,530,349C/A—likely benign
rs12449706929:101,530,352A/G—likely benign
rs3744844729:101,530,353A/G—likely benign
rs15883736409:101,530,355A/G—likely benign
rs24903794279:101,530,363C/A—likely pathogenic
rs5531353869:101,530,378G/A—benign
rs1460389019:101,530,392G/A—uncertain significance
rs7603879349:101,530,400G/A—uncertain significance
rs3683112129:101,530,411C/T—likely benign
rs7652489689:101,530,413G/C—uncertain significance
rs7551184859:101,530,423C/T—likely benign
rs3681307829:101,530,425G/A—uncertain significance
rs9786730289:101,530,448C/T—uncertain significance
rs15547422789:101,530,453G/T—uncertain significance
rs11790455279:101,530,464G/C—uncertain significance
rs7561102619:101,530,516A/G—likely benign
rs1995542999:101,530,525G/A—likely benign
rs14580808349:101,530,533C/T—likely pathogenic
rs3975142579:101,530,535G/Csplice region variantpathogenic
rs7793174419:101,530,538G/A—likely benign
rs132884729:101,530,792A/G—likely benign
rs3688858379:101,533,184G/A—uncertain significance
rs7619815169:101,533,202C/T—uncertain significance
rs3728459689:101,533,203G/A—likely benign
rs2008183989:101,533,207C/T—uncertain significance
rs7740308679:101,533,208G/A—uncertain significance
rs9332618329:101,533,210C/T—uncertain significance
rs3725870389:101,533,212C/G—likely benign

Showing 100 of 349 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.