ZFAT

zinc finger and AT-hook domain containing

Summary

This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]

Known Variants126 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2018181978:135,490,774A/Guncertain significance
rs7771204298:135,490,775T/Auncertain significance
rs14281579508:135,490,804G/Auncertain significance
rs7774976688:135,490,837G/Auncertain significance
rs1883245718:135,490,902C/Tlikely benign
rs5773329908:135,490,915G/Auncertain significance
rs14404315268:135,490,924A/Guncertain significance
rs14733745948:135,490,950C/Guncertain significance
rs7692265868:135,490,951T/Guncertain significance
rs169051608:135,521,880C/Tbenign
rs2014928248:135,521,881G/Auncertain significance
rs7490550338:135,521,974G/Auncertain significance
rs7634092858:135,521,989T/Cuncertain significance
rs1490475148:135,521,990C/Tuncertain significance
rs7736055238:135,524,750G/Auncertain significance
rs7473825618:135,524,826C/Tuncertain significance
rs14637785108:135,533,142C/Tuncertain significance
rs1145897318:135,533,213T/Cbenign
rs7528044028:135,533,233A/Tuncertain significance
rs7703699818:135,545,110C/Tuncertain significance
rs3705732698:135,545,112G/Clikely benign
rs24888539948:135,545,152T/Guncertain significance
rs7554251778:135,545,193T/Cuncertain significance
rs7677584808:135,545,209G/Auncertain significance
rs169051718:135,555,841T/Cintron variant
rs24884171088:135,577,616G/Auncertain significance
rs18243662568:135,577,629C/Auncertain significance
rs7775957298:135,577,646G/Auncertain significance
rs96932378:135,578,218G/Aintron variant
rs69982378:135,584,019G/A
rs65776558:135,593,725C/Tregulatory region variant
rs12833699838:135,596,207G/Auncertain significance
rs7654163158:135,596,227G/Auncertain significance
rs169051898:135,598,132C/Gintron variant
rs8943608:135,601,194T/G
rs1380338068:135,602,591C/Guncertain significance
rs287162358:135,602,976A/G
rs169051928:135,606,600T/Cupstream gene variant
rs169051948:135,610,207A/Trisk factor
rs10368198:135,611,945A/Cintron variant
rs2010313258:135,612,744C/Tuncertain significance
rs14702348:135,613,194A/T
rs7501429458:135,613,786G/Cuncertain significance
rs24886436388:135,613,818A/Guncertain significance
rs7796883878:135,613,888C/Tlikely benign
rs350037678:135,613,947C/Tbenign
rs11808881788:135,613,955A/Tuncertain significance
rs7700588898:135,614,019T/Auncertain significance
rs3724674168:135,614,088T/Cuncertain significance
rs10184415768:135,614,110T/Cuncertain significance
rs7461624218:135,614,169A/Guncertain significance
rs795999028:135,614,221C/Tbenign
rs2002622108:135,614,230C/Tuncertain significance
rs9876811098:135,614,258T/Guncertain significance
rs7703400638:135,614,260C/Tuncertain significance
rs3725688698:135,614,268G/Auncertain significance
rs1806910578:135,614,317G/Auncertain significance
rs1423318558:135,614,326A/Gbenign
rs340085458:135,614,428G/Abenign
rs7664320618:135,614,475T/Auncertain significance
rs7594160378:135,614,487C/Auncertain significance
rs24886520738:135,614,535T/Cuncertain significance
rs7718534068:135,614,538G/Auncertain significance
rs1128923378:135,614,553G/Cmissense variantpathogenic
rs3747675718:135,614,572G/Cuncertain significance
rs11907275168:135,614,592A/Guncertain significance
rs8679809288:135,614,704C/Auncertain significance
rs13479799008:135,614,761G/Cuncertain significance
rs24886546368:135,614,763C/Tuncertain significance
rs1997245468:135,614,835G/Aconflicting classifications of pathogenicity
rs3688259988:135,614,841C/Tuncertain significance
rs758240838:135,614,908T/Cbenign
rs24886566088:135,614,931T/Guncertain significance
rs3767199168:135,614,981G/Alikely benign
rs7591841648:135,615,058G/Tuncertain significance
rs3730365998:135,615,062C/Auncertain significance
rs3757354598:135,615,081G/Tuncertain significance
rs7494102368:135,615,100C/Auncertain significance
rs1481441078:135,615,293G/Adownstream gene variant
rs70078208:135,616,737A/C
rs49093098:135,619,272T/Cintron variant
rs10168670478:135,620,990T/Cuncertain significance
rs7740067748:135,621,008T/Cuncertain significance
rs7793448918:135,621,036G/Auncertain significance
rs23158378:135,622,341T/Cintron variant
rs22771388:135,622,640T/Cintron variant
rs1922920428:135,622,763G/Auncertain significance
rs24886965368:135,622,820T/Cuncertain significance
rs1999207988:135,622,830G/Cuncertain significance
rs755967508:135,622,851G/Amissense variant
rs111666298:135,636,964C/Tintron variant
rs126806558:135,637,337C/Gintron variant
rs49093238:135,637,692G/Tintron variant
rs7332548:135,638,632C/Aintron variant
rs12466471838:135,639,620T/A
rs2021346578:135,649,710C/Guncertain significance
rs3761587378:135,649,743T/Cuncertain significance
rs7728402518:135,649,780C/Auncertain significance
rs69955998:135,653,535C/G
rs111666508:135,657,050G/Aintron variant

Showing 100 of 126 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.