ATOH7

atonal bHLH transcription factor 7

Summary

This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]

Known Variants111 total

rsidPosition (GRCh37)AllelesClassClinVar
rs55544640010:69,990,980G/A—uncertain significance
rs135416431110:69,990,982G/A—likely benign
rs97928346410:69,990,986A/G—uncertain significance
rs213438011110:69,990,989T/C—uncertain significance
rs77749827110:69,990,999C/T—uncertain significance
rs74897880510:69,991,000G/C—likely benign
rs77051452410:69,991,002G/C—uncertain significance
rs77396101010:69,991,009G/A—likely benign
rs140975901110:69,991,025C/T—uncertain significance
rs77570545710:69,991,027G/A—likely benign
rs77679759510:69,991,031A/G—conflicting classifications of pathogenicity
rs76204763310:69,991,033C/A—uncertain significance
rs36893471910:69,991,039C/T—likely benign
rs104442175510:69,991,046G/T—uncertain significance
rs204402499210:69,991,052T/G—uncertain significance
rs213438021010:69,991,059C/G—uncertain significance
rs76742621710:69,991,060C/G—likely benign
rs249204279510:69,991,070A/C—uncertain significance
rs249204280610:69,991,075G/A—likely benign
rs20116223810:69,991,079T/C—uncertain significance
rs204402522210:69,991,080C/T—uncertain significance
rs142322021310:69,991,087G/C—uncertain significance
rs78054573710:69,991,088A/C—uncertain significance
rs20195552610:69,991,099G/C—uncertain significance
rs76199481510:69,991,106C/T—uncertain significance
rs126293868210:69,991,111C/T—uncertain significance
rs77331657810:69,991,127C/G—uncertain significance
rs76302107310:69,991,129G/A—likely benign
rs135214952210:69,991,138G/A—likely benign
rs249204299610:69,991,144G/T—uncertain significance
rs213438033310:69,991,146C/G—uncertain significance
rs54440942110:69,991,155G/A—uncertain significance
rs204402579810:69,991,160A/G—uncertain significance
rs13938707810:69,991,163G/C—uncertain significance
rs146481750710:69,991,165C/T—uncertain significance
rs213438037210:69,991,166A/G—uncertain significance
rs204402587310:69,991,167T/G—uncertain significance
rs204402594710:69,991,184A/T—uncertain significance
rs119834122510:69,991,185T/C—uncertain significance
rs213438040610:69,991,190A/T—uncertain significance
rs204402605510:69,991,195C/G—uncertain significance
rs20015610810:69,991,201C/T—likely benign
rs143991733410:69,991,217T/C—uncertain significance
rs55775031810:69,991,219C/G—uncertain significance
rs213438048810:69,991,224C/G—uncertain significance
rs249204320310:69,991,225C/T—uncertain significance
rs77005373810:69,991,229T/C—uncertain significance
rs14054653110:69,991,231G/A—benign
rs37013094410:69,991,232G/C—uncertain significance
rs119614058710:69,991,233G/C—uncertain significance
rs134106078210:69,991,236C/G—uncertain significance
rs11169902410:69,991,242T/C—uncertain significance
rs213438053010:69,991,246T/C—likely benign
rs76160455410:69,991,248A/T—uncertain significance
rs37327213210:69,991,251G/T—uncertain significance
rs213438056410:69,991,255G/T—uncertain significance
rs75449451810:69,991,259G/A—uncertain significance
rs13827406910:69,991,260C/T—pathogenic
rs126731317910:69,991,262G/A—uncertain significance
rs14947487410:69,991,263T/C—uncertain significance
rs146470231810:69,991,264G/A—likely benign
rs37135115510:69,991,265T/C—uncertain significance
rs37603395010:69,991,269G/A—uncertain significance
rs117627029010:69,991,273C/G—uncertain significance
rs74949380010:69,991,274T/G—uncertain significance
rs77455899310:69,991,281G/C—likely pathogenic
rs58777766410:69,991,289T/Amissense variantpathogenic
rs14597594010:69,991,291G/A—likely benign
rs131206438710:69,991,295G/A—uncertain significance
rs249204344010:69,991,296C/T—uncertain significance
rs77292368310:69,991,298T/C—uncertain significance
rs58777766610:69,991,299T/Gmissense variantpathogenic
rs249204346110:69,991,302C/T—uncertain significance
rs76266699510:69,991,304G/T—uncertain significance
rs213438070910:69,991,305C/G—uncertain significance
rs75121406610:69,991,311G/C—uncertain significance
rs249204353610:69,991,326T/C—uncertain significance
rs74967217610:69,991,333C/G—likely benign
rs204402784610:69,991,335G/A—uncertain significance
rs75770950910:69,991,336C/A—likely benign
rs204402801410:69,991,347C/T—uncertain significance
rs204402807210:69,991,352G/C—uncertain significance
rs204402813810:69,991,356C/T—uncertain significance
rs135129155910:69,991,357C/T—likely benign
rs213438079510:69,991,361C/T—uncertain significance
rs204402819010:69,991,365C/A—uncertain significance
rs88800495010:69,991,366G/A—likely benign
rs204402823410:69,991,367G/T—uncertain significance
rs125147477710:69,991,376G/C—uncertain significance
rs105509269510:69,991,377C/T—uncertain significance
rs213438082310:69,991,382G/T—uncertain significance
rs101371109010:69,991,387T/C—likely benign
rs204402848010:69,991,392C/A—uncertain significance
rs86730015010:69,991,394C/T—uncertain significance
rs249204373310:69,991,400C/T—uncertain significance
rs249204373610:69,991,402C/T—likely benign
rs121092774610:69,991,406G/C—uncertain significance
rs213438085610:69,991,407G/C—uncertain significance
rs131124559710:69,991,408C/A—likely benign
rs213438086710:69,991,409G/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.