UNC13A

unc-13 homolog A

Summary

This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]

Known Variants197 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37497584319:17,716,883C/T—uncertain significance
rs75365854219:17,716,911C/T—likely benign
rs251293820519:17,716,913T/C—uncertain significance
rs89002045719:17,716,941G/A—likely benign
rs77720719819:17,716,945T/C—uncertain significance
rs144644892119:17,716,983C/T—likely benign
rs77870470619:17,717,010G/A—likely benign
rs214489963319:17,717,030C/G—uncertain significance
rs77047607619:17,717,043G/T—likely benign
rs74559850419:17,717,053C/T—uncertain significance
rs77900713719:17,717,120C/T—uncertain significance
rs251294040319:17,717,150C/T—uncertain significance
rs251295306719:17,720,755A/G—uncertain significance
rs37103764919:17,720,757G/A—likely benign
rs129986702919:17,720,881T/G—uncertain significance
rs75038845919:17,720,886C/T—likely benign
rs75341427319:17,720,896T/C—uncertain significance
rs77793132519:17,722,612G/A—likely benign
rs14133489719:17,722,663G/A—likely benign
rs52794558619:17,728,521T/C—likely benign
rs55256744619:17,728,554G/A—benign
rs54711472619:17,729,260C/T—likely benign
rs19179333719:17,729,739C/T—benign
rs37768625619:17,729,751A/G—likely benign
rs5625744619:17,729,787G/T—benign
rs37533047319:17,731,494G/A—likely benign
rs36902604619:17,731,539G/A—likely benign
rs37325315919:17,734,351G/A—likely benign
rs14888331019:17,735,631A/G—conflicting classifications of pathogenicity
rs134586976519:17,735,672T/C—uncertain significance
rs37263302719:17,737,434C/T—likely benign
rs148076718419:17,737,450C/G—likely benign
rs251300002619:17,737,467G/A—uncertain significance
rs53331627419:17,737,533C/T—uncertain significance
rs20148731519:17,737,544C/A—uncertain significance
rs86803195319:17,737,565T/C—uncertain significance
rs74774486719:17,737,585C/T—likely benign
rs251300068319:17,737,604C/A—likely benign
rs75958382519:17,738,341C/T—likely benign
rs147094669519:17,738,352C/T—uncertain significance
rs76507272019:17,738,357T/C—uncertain significance
rs147645062019:17,738,411G/A—likely benign
rs7583061019:17,738,717T/C—benign
rs77039365119:17,738,720C/T—likely benign
rs36978461919:17,740,076G/A—likely benign
rs78093822419:17,740,095A/G—uncertain significance
rs54758620919:17,740,992G/A—uncertain significance
rs75016459619:17,740,996G/A—likely benign
rs105540516119:17,741,004C/T—uncertain significance
rs1041382119:17,741,047A/G—benign
rs6004875519:17,741,050A/G—benign
rs251301135519:17,741,064A/G—uncertain significance
rs19118616419:17,741,071T/C—likely benign
rs77522186019:17,741,105G/C—likely benign
rs75891642219:17,741,491C/G—uncertain significance
rs251301346619:17,741,494T/C—uncertain significance
rs37080014119:17,741,528C/T—uncertain significance
rs77791551219:17,743,607C/T—uncertain significance
rs37188312719:17,743,608G/A—benign
rs36922637019:17,743,623G/A—likely benign
rs251302243919:17,743,638A/G—likely benign
rs37175693819:17,743,644A/G—likely benign
rs36917103119:17,743,686G/A—likely benign
rs11309056619:17,743,927G/A—likely benign
rs77466804219:17,743,969G/C—uncertain significance
rs74556424019:17,743,984A/G—likely benign
rs77821620219:17,746,826A/G—likely benign
rs36857150819:17,746,868C/T—likely benign
rs75025481419:17,746,903A/C—uncertain significance
rs11150852219:17,746,913G/A—likely benign
rs7726773819:17,746,940T/C—benign
rs77796391019:17,746,943T/G—likely benign
rs77565190019:17,746,958C/T—likely benign
rs75796108419:17,749,882G/A—likely benign
rs20032844819:17,749,893G/A—likely benign
rs37450352719:17,749,949G/A—likely benign
rs77065605119:17,750,007G/A—uncertain significance
rs251304058419:17,750,017G/A—uncertain significance
rs251304340619:17,750,648C/T—uncertain significance
rs124850701619:17,750,697G/T—likely benign
rs7724412219:17,750,725G/A—benign
rs207695702419:17,751,321C/T—conflicting classifications of pathogenicity
rs37181677419:17,751,347G/A—likely benign
rs37263519419:17,751,404G/A—benign
rs76573309219:17,751,422G/A—likely benign
rs251304687819:17,751,444T/C—uncertain significance
rs37357717119:17,752,216G/C—uncertain significance
rs37467456719:17,752,276G/A—likely benign
rs56510617719:17,752,297G/A—likely benign
rs20186299719:17,752,331T/C—uncertain significance
rs77337432119:17,752,344C/T—uncertain significance
rs1260893219:17,752,689A/T——
rs1297319219:17,753,239C/Gintron variant—
rs207698551719:17,753,685G/A—likely pathogenic
rs20205385119:17,753,720G/T—likely benign
rs251305475619:17,753,730C/T—uncertain significance
rs14987127619:17,753,747G/A—benign
rs136521774919:17,756,489T/G—uncertain significance
rs159937142619:17,756,521C/T—uncertain significance
rs143609976419:17,756,582C/T—uncertain significance

Showing 100 of 197 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.