SP7

Sp7 transcription factor

Summary

This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]

Known Variants132 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14015933512:53,721,871T/A—likely benign
rs11516899812:53,721,926C/T—likely benign
rs18282027512:53,721,954C/T—conflicting classifications of pathogenicity
rs77722568412:53,721,973G/A—uncertain significance
rs76910825112:53,722,005T/C—likely benign
rs90080890912:53,722,006C/T—uncertain significance
rs54994808712:53,722,012G/A—uncertain significance
rs57187706012:53,722,035C/T—likely benign
rs36979229612:53,722,042C/T—conflicting classifications of pathogenicity
rs75690598412:53,722,043G/A—uncertain significance
rs56646952712:53,722,049C/T—uncertain significance
rs37332865712:53,722,056C/A—uncertain significance
rs77210151812:53,722,060T/C—uncertain significance
rs96119560712:53,722,078G/A—uncertain significance
rs194465683712:53,722,080A/G—likely benign
rs76084622412:53,722,084G/A—uncertain significance
rs76666188212:53,722,087C/G—uncertain significance
rs136699251212:53,722,097C/T—uncertain significance
rs713893812:53,722,098A/G—benign
rs75833801012:53,722,106G/A—uncertain significance
rs194465797012:53,722,122G/T—uncertain significance
rs75692202612:53,722,125G/A—likely benign
rs713927212:53,722,128A/G—benign
rs142778061912:53,722,133G/A—uncertain significance
rs74965309912:53,722,135G/A—uncertain significance
rs20042261612:53,722,141C/T—uncertain significance
rs136119999612:53,722,142G/A—uncertain significance
rs37258804412:53,722,170C/T—likely benign
rs77706088812:53,722,178G/A—uncertain significance
rs115688720212:53,722,189C/T—uncertain significance
rs75104149512:53,722,194A/G—likely benign
rs135136564712:53,722,197A/T—likely benign
rs37005106612:53,722,198C/T—uncertain significance
rs143840324612:53,722,199G/A—uncertain significance
rs213683394712:53,722,207T/G—uncertain significance
rs75668527812:53,722,212C/T—likely benign
rs75013320912:53,722,216C/T—uncertain significance
rs77918318012:53,722,217G/A—uncertain significance
rs75306429612:53,722,219G/C—uncertain significance
rs37543484812:53,722,227C/G—uncertain significance
rs11685614212:53,722,233A/G—benign
rs76274699912:53,722,239G/A—likely benign
rs37521712212:53,722,253C/T—uncertain significance
rs140077158512:53,722,265C/T—uncertain significance
rs54529918412:53,722,266G/A—likely benign
rs19973709712:53,722,279C/T—uncertain significance
rs156578968212:53,722,280G/A—uncertain significance
rs74990179312:53,722,282A/C—uncertain significance
rs15104555912:53,722,299C/T—benign
rs123230644912:53,722,300G/C—uncertain significance
rs75216407312:53,722,323G/A—likely benign
rs74589766912:53,722,360C/T—uncertain significance
rs19967388112:53,722,361G/A—likely benign
rs11329505512:53,722,362C/T—likely benign
rs56108385812:53,722,371C/T—conflicting classifications of pathogenicity
rs213683437912:53,722,378G/A—uncertain significance
rs20058263112:53,722,387C/A—uncertain significance
rs76011203912:53,722,388G/A—uncertain significance
rs75358657012:53,722,415C/T—uncertain significance
rs20166683412:53,722,427G/A—uncertain significance
rs117546380312:53,722,433C/T—uncertain significance
rs75053222012:53,722,440G/T—likely benign
rs36785843012:53,722,444C/A—uncertain significance
rs147789128712:53,722,451C/G—uncertain significance
rs123708739112:53,722,453C/T—uncertain significance
rs57182559212:53,722,464A/G—benign
rs120478580212:53,722,474C/A—uncertain significance
rs249866600812:53,722,475C/T—uncertain significance
rs143358892412:53,722,478G/A—uncertain significance
rs119531060912:53,722,482G/T—likely benign
rs20089735612:53,722,487T/G—uncertain significance
rs20016722312:53,722,514C/A—uncertain significance
rs76798585112:53,722,536T/C—likely benign
rs125098123712:53,722,551G/A—uncertain significance
rs76651860212:53,722,560A/G—likely benign
rs249866666212:53,722,584G/A—likely benign
rs77752353412:53,722,594G/A—uncertain significance
rs131360507712:53,722,601G/A—uncertain significance
rs37713436812:53,722,641C/A—likely benign
rs77534644712:53,722,643G/C—uncertain significance
rs249866697412:53,722,652T/C—uncertain significance
rs76267811012:53,722,661G/A—likely benign
rs36873734112:53,722,662C/T—likely benign
rs36987823912:53,722,674T/C—likely benign
rs146198477312:53,722,686C/T—conflicting classifications of pathogenicity
rs130343622612:53,722,695C/G—likely benign
rs249866732512:53,722,704C/T—likely benign
rs129447102012:53,722,726C/T—uncertain significance
rs97878119612:53,722,771C/G—uncertain significance
rs75723575712:53,722,794A/G—likely benign
rs74580934212:53,722,801C/T—uncertain significance
rs194467040412:53,722,809G/A—likely benign
rs74898512712:53,722,818G/A—likely benign
rs120808442012:53,722,854A/G—likely benign
rs76089105812:53,722,855C/T—uncertain significance
rs144715193012:53,722,856T/C—uncertain significance
rs121751556512:53,722,860C/G—likely benign
rs37277594912:53,722,875G/A—likely benign
rs37721640012:53,722,901C/T—uncertain significance
rs194467219612:53,722,911G/A—likely benign

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.