SYNJ1

synaptojanin 1

Summary

This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Known Variants1,196 total

rsidPosition (GRCh37)AllelesClassClinVar
rs203929617521:34,003,308T/C—uncertain significance
rs77256224821:34,003,309C/T—uncertain significance
rs74706595621:34,003,314T/C—likely benign
rs100741496521:34,003,317A/G—likely benign
rs214565393121:34,003,318A/T—uncertain significance
rs53657290421:34,003,322C/A—uncertain significance
rs122251929221:34,003,332T/C—likely benign
rs251726619021:34,003,337C/T—uncertain significance
rs203929828321:34,003,345G/A—uncertain significance
rs76203991821:34,003,346C/T—uncertain significance
rs76494946521:34,003,348A/C—uncertain significance
rs77807362621:34,003,352T/C—uncertain significance
rs76304222021:34,003,353C/T—likely benign
rs11151674021:34,003,354G/A—likely benign
rs203929998121:34,003,360G/A—uncertain significance
rs214565443521:34,003,362A/G—likely benign
rs76700693321:34,003,365T/C—likely benign
rs135283493921:34,003,372G/T—uncertain significance
rs128198463421:34,003,374G/A—likely benign
rs75230336621:34,003,375C/T—uncertain significance
rs74724569021:34,003,377G/A—likely benign
rs74622620621:34,003,378G/C—uncertain significance
rs75895300921:34,003,382C/T—uncertain significance
rs14867646521:34,003,383G/A—likely benign
rs251726686321:34,003,384G/A—uncertain significance
rs77127824521:34,003,386C/T—likely benign
rs223076721:34,003,387G/A—likely benign
rs74838751221:34,003,394G/A—likely benign
rs101604084621:34,003,395A/G—likely benign
rs77004516421:34,003,396G/C—uncertain significance
rs203930336621:34,003,403G/A—uncertain significance
rs91253582021:34,003,406G/A—uncertain significance
rs121016337321:34,003,408G/A—uncertain significance
rs36759170421:34,003,411G/C—uncertain significance
rs77081291521:34,003,412G/A—uncertain significance
rs55910225821:34,003,425C/T—likely benign
rs76693809121:34,003,426G/A—uncertain significance
rs116054658621:34,003,431C/T—likely benign
rs75224458721:34,003,434A/G—likely benign
rs214565520721:34,003,436A/T—uncertain significance
rs76029949521:34,003,437G/C—uncertain significance
rs203930560021:34,003,439A/G—uncertain significance
rs251726768721:34,003,446A/G—likely benign
rs203930582121:34,003,447T/G—uncertain significance
rs76377624621:34,003,449T/C—likely benign
rs15075389221:34,003,450G/C—likely benign
rs57729245221:34,003,454C/T—uncertain significance
rs135859402721:34,003,471T/C—uncertain significance
rs124548030721:34,003,472T/G—uncertain significance
rs75206745821:34,003,476T/C—likely benign
rs75547364221:34,003,477G/A—uncertain significance
rs119501728221:34,003,481G/A—likely benign
rs214565562121:34,003,482G/A—likely benign
rs214565563721:34,003,487A/T—uncertain significance
rs78118779221:34,003,489C/T—uncertain significance
rs13921287121:34,003,497T/C—likely benign
rs76995472021:34,003,502T/C—uncertain significance
rs7605654321:34,003,504G/A—likely benign
rs251726834221:34,003,510T/C—uncertain significance
rs37142545221:34,003,511T/G—uncertain significance
rs37535278021:34,003,513C/T—uncertain significance
rs77086598421:34,003,517G/T—uncertain significance
rs75961161921:34,003,521G/C—uncertain significance
rs76347051121:34,003,539T/C—likely benign
rs13812216721:34,003,541A/T—uncertain significance
rs14642505021:34,003,563C/G—uncertain significance
rs77018852821:34,003,574C/T—uncertain significance
rs14101297721:34,003,575G/A—likely benign
rs117388301521:34,003,579G/A—uncertain significance
rs77992320421:34,003,585C/T—uncertain significance
rs146605455921:34,003,588C/T—uncertain significance
rs130410253821:34,003,589C/T—uncertain significance
rs77794578221:34,003,593C/T—likely benign
rs74952788221:34,003,594G/C—uncertain significance
rs203931467921:34,003,596G/A—likely benign
rs37345529421:34,003,602A/G—likely benign
rs77611576921:34,003,624T/G—uncertain significance
rs148516063621:34,003,628G/A—likely benign
rs76484852121:34,003,630T/A—uncertain significance
rs214565672921:34,003,633A/G—uncertain significance
rs76772895821:34,003,641C/T—likely benign
rs75326452621:34,003,646A/G—uncertain significance
rs203931835421:34,003,656T/C—likely benign
rs77924263921:34,003,662T/C—likely benign
rs75823379921:34,003,666G/T—uncertain significance
rs53203486721:34,003,672C/T—conflicting classifications of pathogenicity
rs144313172521:34,003,673T/C—uncertain significance
rs214565716221:34,003,684C/T—uncertain significance
rs251727070021:34,003,700A/T—uncertain significance
rs101254224321:34,003,703G/C—uncertain significance
rs36966649721:34,003,704G/A—likely benign
rs77616877421:34,003,719A/G—likely benign
rs122066912021:34,003,721C/T—uncertain significance
rs14069692921:34,003,722G/A—likely benign
rs76925355021:34,003,725C/T—likely benign
rs128327717421:34,003,727C/T—uncertain significance
rs251727107821:34,003,728T/C—likely benign
rs77287862421:34,003,744G/A—uncertain significance
rs214565751321:34,003,748T/C—uncertain significance
rs251727137721:34,003,752C/T—likely benign

Showing 100 of 1,196 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.