TSHZ1

teashirt zinc finger homeobox 1

Summary

This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]

Known Variants127 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs762506031	18:72,923,105	G/A	—	uncertain significance
rs763707409	18:72,923,106	C/G	—	uncertain significance
rs78788703	18:72,997,489	A/G	—	benign
rs375819140	18:72,997,525	G/A	—	uncertain significance
rs775977820	18:72,997,529	C/T	—	uncertain significance
rs371975193	18:72,997,530	G/A	—	likely benign
rs543956737	18:72,997,562	C/T	—	uncertain significance
rs764108233	18:72,997,589	C/T	—	uncertain significance
rs1163485035	18:72,997,591	C/A	—	uncertain significance
rs373269702	18:72,997,638	C/T	—	likely benign
rs3826609	18:72,997,677	C/T	—	benign
rs745502104	18:72,997,682	C/T	—	uncertain significance
rs144905081	18:72,997,737	C/T	—	likely benign
rs371623190	18:72,997,738	G/A	—	uncertain significance
rs779363710	18:72,997,787	C/T	—	uncertain significance
rs781109773	18:72,997,801	G/T	—	uncertain significance
rs2023749496	18:72,997,827	C/G	—	likely benign
rs200439069	18:72,997,832	C/T	—	benign
rs1453570708	18:72,997,856	T/C	—	likely benign
rs1415372936	18:72,997,861	A/C	—	likely benign
rs112669427	18:72,997,865	C/T	—	likely benign
rs201448115	18:72,997,906	A/G	—	uncertain significance
rs148319172	18:72,997,971	A/G	—	likely benign
rs141479960	18:72,997,977	C/T	—	benign
rs200468182	18:72,997,983	G/A	—	likely benign
rs755263657	18:72,998,000	C/T	—	uncertain significance
rs3744908	18:72,998,004	T/C	—	benign
rs1261089061	18:72,998,038	G/A	—	uncertain significance
rs201310318	18:72,998,050	C/T	—	uncertain significance
rs373968717	18:72,998,088	C/T	—	likely benign
rs757158510	18:72,998,089	G/A	—	uncertain significance
rs1352257685	18:72,998,095	A/C	—	uncertain significance
rs2023758619	18:72,998,123	C/T	—	uncertain significance
rs748921103	18:72,998,128	G/A	—	uncertain significance
rs148422389	18:72,998,139	G/A	—	benign
rs1209433853	18:72,998,201	C/T	—	uncertain significance
rs140283079	18:72,998,211	C/G	—	benign
rs372615647	18:72,998,213	A/G	—	uncertain significance
rs730882070	18:72,998,220	G/A	stop gained	pathogenic
rs770358957	18:72,998,256	G/T	—	uncertain significance
rs3744909	18:72,998,268	T/C	—	benign
rs762943761	18:72,998,302	C/T	—	uncertain significance
rs753713537	18:72,998,337	C/T	—	likely benign
rs2023764946	18:72,998,390	C/T	—	uncertain significance
rs730882069	18:72,998,443	—	—	pathogenic
rs372094271	18:72,998,443	C/T	—	likely benign
rs2511932157	18:72,998,467	G/A	—	uncertain significance
rs145008445	18:72,998,530	G/A	—	uncertain significance
rs376372721	18:72,998,637	C/T	—	likely benign
rs767021398	18:72,998,689	A/C	—	uncertain significance
rs568803492	18:72,998,702	C/T	—	uncertain significance
rs142270240	18:72,998,774	C/T	—	uncertain significance
rs2122623138	18:72,998,776	C/T	—	uncertain significance
rs1180508098	18:72,998,866	C/T	—	uncertain significance
rs3809997	18:72,998,886	C/T	—	benign
rs199588905	18:72,998,887	G/A	—	uncertain significance
rs374017862	18:72,998,888	T/A	—	uncertain significance
rs33930274	18:72,998,899	G/A	—	benign
rs201058634	18:72,998,900	C/T	—	uncertain significance
rs111329836	18:72,998,901	G/T	—	benign
rs375468249	18:72,998,908	A/G	—	uncertain significance
rs761213340	18:72,998,923	G/A	—	uncertain significance
rs2511933024	18:72,998,962	C/A	—	uncertain significance
rs377145373	18:72,998,988	C/T	—	likely benign
rs755572080	18:72,998,995	C/T	—	uncertain significance
rs759728503	18:72,999,068	G/C	—	uncertain significance
rs200629224	18:72,999,127	G/T	—	uncertain significance
rs781774630	18:72,999,140	C/T	—	uncertain significance
rs139729915	18:72,999,148	G/A	—	uncertain significance
rs145301120	18:72,999,157	G/A	—	uncertain significance
rs975396803	18:72,999,200	C/T	—	uncertain significance
rs149729975	18:72,999,205	G/A	—	likely benign
rs201765142	18:72,999,254	C/T	—	uncertain significance
rs200947838	18:72,999,268	G/A	—	uncertain significance
rs200595144	18:72,999,274	G/T	—	uncertain significance
rs2511933645	18:72,999,277	A/C	—	uncertain significance
rs141313878	18:72,999,303	G/A	—	likely benign
rs761705201	18:72,999,334	C/T	—	uncertain significance
rs769798292	18:72,999,335	C/T	—	uncertain significance
rs775558843	18:72,999,337	C/T	—	uncertain significance
rs1248776224	18:72,999,345	G/A	—	likely benign
rs55679337	18:72,999,359	C/T	—	benign
rs138822817	18:72,999,374	C/G	—	uncertain significance
rs745717773	18:72,999,401	T/C	—	uncertain significance
rs111787453	18:72,999,404	C/T	—	benign
rs2511933940	18:72,999,446	C/G	—	uncertain significance
rs141935669	18:72,999,454	G/A	—	uncertain significance
rs756026547	18:72,999,482	C/T	—	uncertain significance
rs549076959	18:72,999,489	C/G	—	uncertain significance
rs113033195	18:72,999,563	T/C	—	benign
rs370322226	18:72,999,575	C/T	—	likely benign
rs2023796885	18:72,999,601	A/G	—	uncertain significance
rs148699993	18:72,999,662	C/T	—	uncertain significance
rs200217009	18:72,999,721	T/G	—	uncertain significance
rs141280995	18:72,999,734	C/G	—	likely benign
rs1020952592	18:72,999,757	G/A	—	uncertain significance
rs199676563	18:72,999,760	C/T	—	uncertain significance
rs61732783	18:72,999,769	T/C	—	uncertain significance
rs1187268308	18:72,999,770	A/G	—	uncertain significance
rs150411092	18:72,999,780	C/T	—	likely benign

Showing 100 of 127 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.