EFCAB5

EF-hand calcium binding domain 5

Summary

Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants110 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6207027017:28,263,980A/Gupstream gene variant—
rs56928498917:28,268,827G/C—uncertain significance
rs20119724217:28,268,857G/A—likely benign
rs18946460817:28,270,607C/T—likely benign
rs18508350717:28,295,809A/G—likely benign
rs250891826217:28,295,866C/G—uncertain significance
rs37480551517:28,295,927A/T—uncertain significance
rs250891914717:28,295,947C/A—uncertain significance
rs37267978717:28,295,970C/T—uncertain significance
rs77553283317:28,296,072C/A—uncertain significance
rs76346267517:28,296,082A/G—uncertain significance
rs76451743117:28,296,093G/C—uncertain significance
rs77862581417:28,296,106C/T—uncertain significance
rs11258876017:28,296,122G/C—likely benign
rs14315019017:28,296,168C/A—benign
rs14748198317:28,296,169C/A—benign
rs250892254317:28,296,225G/A—uncertain significance
rs37545475117:28,296,279A/C—uncertain significance
rs145400652117:28,296,345G/A—uncertain significance
rs5586612517:28,312,993T/A——
rs250904191117:28,320,236T/C—uncertain significance
rs37477666717:28,320,269G/A—uncertain significance
rs7454629117:28,320,302G/A—likely benign
rs429196417:28,338,304A/Gupstream gene variant—
rs990245317:28,349,095G/Aregulatory region variant—
rs37450994117:28,361,251A/G—uncertain significance
rs37715518717:28,361,357G/A—likely benign
rs74548054717:28,378,136G/A—uncertain significance
rs14536641717:28,378,137T/G—uncertain significance
rs2850432217:28,378,206T/G—benign
rs14849026217:28,378,221G/A—likely benign
rs37772134317:28,380,346T/C—likely benign
rs14836621417:28,380,358C/G—uncertain significance
rs207015540517:28,380,375T/C—uncertain significance
rs11666635417:28,380,413C/G—benign
rs18267248317:28,380,468C/T—uncertain significance
rs77742511817:28,380,552A/C—uncertain significance
rs143632558317:28,380,560A/C—uncertain significance
rs14750182517:28,380,566C/A—likely benign
rs53206510717:28,380,603T/C—likely benign
rs76357949317:28,380,651G/A—uncertain significance
rs990054617:28,380,655G/T—benign
rs126850454317:28,380,698C/G—uncertain significance
rs37195341617:28,380,745G/A—likely benign
rs125098023717:28,380,825G/A—uncertain significance
rs250929869917:28,380,921A/T—uncertain significance
rs78169655817:28,380,948T/G—uncertain significance
rs20004905617:28,380,985A/G—benign
rs37054664317:28,381,011A/G—uncertain significance
rs76199511617:28,381,049A/G—uncertain significance
rs75099656517:28,381,050T/C—likely benign
rs75657432217:28,381,069A/G—likely benign
rs102576531217:28,381,097G/A—uncertain significance
rs76569967117:28,381,146G/A—uncertain significance
rs116036008417:28,383,108A/T—uncertain significance
rs15007855417:28,383,179A/G—likely benign
rs19082507817:28,384,727G/T—benign
rs76729003417:28,384,819G/A—likely benign
rs18300459617:28,384,837G/A—uncertain significance
rs77696952017:28,386,622G/T—uncertain significance
rs55411287917:28,400,154G/A—likely benign
rs1260035217:28,405,273C/T—benign
rs215183167917:28,405,314A/C—uncertain significance
rs139228719617:28,405,363T/G—uncertain significance
rs77452339617:28,405,383A/G—uncertain significance
rs18322425817:28,405,472G/A—uncertain significance
rs37208643817:28,405,488C/T—uncertain significance
rs14442807517:28,405,504C/A—likely benign
rs207095228117:28,407,103A/G—uncertain significance
rs207095234017:28,407,104T/A—uncertain significance
rs75865056917:28,407,132T/G—uncertain significance
rs20037184717:28,407,223T/C—likely benign
rs250942642917:28,407,763T/C—likely benign
rs75548246117:28,407,791G/A—uncertain significance
rs722174317:28,407,876T/G—benign
rs144829661717:28,407,912G/A—uncertain significance
rs14217823717:28,407,931G/T—likely benign
rs14311409917:28,407,957C/A—likely benign
rs37269936117:28,409,945G/A—uncertain significance
rs37592155017:28,409,952G/C—uncertain significance
rs19306534017:28,410,008A/G—likely benign
rs77091523717:28,410,009C/T—uncertain significance
rs121444215917:28,410,022C/T—likely benign
rs808077217:28,413,129T/Cdownstream gene variant—
rs97023323717:28,414,124T/C—uncertain significance
rs36850544517:28,414,174T/G—uncertain significance
rs989316917:28,414,859A/Tdownstream gene variant—
rs207117310917:28,417,486C/T—uncertain significance
rs449929217:28,417,510T/C—likely benign
rs250945570317:28,417,526G/C—uncertain significance
rs126489251317:28,417,539G/C—uncertain significance
rs14094909217:28,417,566G/A—benign
rs250945644317:28,417,674A/G—likely benign
rs76765495717:28,418,940T/A—uncertain significance
rs11314460017:28,419,077G/T—uncertain significance
rs37226638817:28,419,106G/A—likely benign
rs140616354817:28,419,135A/G—uncertain significance
rs77363926717:28,419,158T/C—uncertain significance
rs37358160117:28,419,167T/C—uncertain significance
rs5612990817:28,421,382T/G——

Showing 100 of 110 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.