TET2

tet methylcytosine dioxygenase 2

Summary

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

Known Variants520 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs935401210	4:105,235,774	A/T	—	likely benign
rs9790517	4:106,084,778	C/T	intron variant	—
rs17583558	4:106,102,406	G/T	—	—
rs10461139	4:106,105,299	A/G	intron variant	—
rs10010325	4:106,106,353	C/A	intron variant	—
rs28493806	4:106,106,709	A/G	intron variant	—
rs4699165	4:106,109,381	A/C	—	—
rs17583593	4:106,113,683	T/C	intron variant	—
rs1015521	4:106,115,450	G/T	regulatory region variant	—
rs11726786	4:106,120,756	T/A	—	—
rs2047408	4:106,123,582	G/A	—	—
rs78632895	4:106,123,638	A/G	—	—
rs6533182	4:106,124,585	C/A	—	—
rs75321784	4:106,125,022	A/G	intron variant	—
rs988799	4:106,126,413	G/C	intron variant	—
rs34104813	4:106,127,121	C/A	—	—
rs7663401	4:106,128,954	C/T	intron variant	—
rs2007403	4:106,131,210	C/G	—	—
rs6855629	4:106,134,316	G/A	intron variant	—
rs4698934	4:106,139,387	T/A	—	—
rs11097882	4:106,142,960	C/T	intron variant	—
rs200061716	4:106,143,100	C/T	—	—
rs62332762	4:106,143,492	C/T	intron variant	—
rs9884984	4:106,143,948	G/C	—	—
rs183431550	4:106,155,108	G/A	—	likely benign
rs200508474	4:106,155,114	A/G	—	likely benign
rs1369646936	4:106,155,120	C/T	—	likely benign
rs147112198	4:106,155,121	C/G	—	likely benign
rs1578668513	4:106,155,135	C/T	—	likely benign
rs146373819	4:106,155,136	A/C	—	likely benign
rs1239334104	4:106,155,159	A/C	—	likely benign
rs762289112	4:106,155,173	G/T	—	uncertain significance
rs765788512	4:106,155,179	C/G	—	uncertain significance
rs12498609	4:106,155,185	C/G	—	benign
rs150238743	4:106,155,194	C/T	—	uncertain significance
rs111948941	4:106,155,199	C/T	—	benign
rs2110219622	4:106,155,212	G/T	—	uncertain significance
rs1439284477	4:106,155,215	C/T	—	uncertain significance
rs1728678121	4:106,155,270	C/T	—	likely benign
rs773794356	4:106,155,279	T/C	—	likely benign
rs1415748040	4:106,155,295	A/T	—	uncertain significance
rs1284969452	4:106,155,339	A/G	—	likely benign
rs1221877686	4:106,155,350	G/T	—	uncertain significance
rs1728687107	4:106,155,361	T/C	—	uncertain significance
rs780091980	4:106,155,372	T/C	—	likely benign
rs1187881284	4:106,155,385	C/T	—	uncertain significance
rs2476478984	4:106,155,398	A/G	—	uncertain significance
rs1156737666	4:106,155,401	C/T	—	uncertain significance
rs149373293	4:106,155,422	A/T	—	uncertain significance
rs2476479357	4:106,155,435	G/T	—	uncertain significance
rs1728692644	4:106,155,439	C/T	—	pathogenic
rs1728693166	4:106,155,445	C/T	—	pathogenic
rs146311392	4:106,155,455	A/G	—	uncertain significance
rs773565437	4:106,155,467	G/A	—	uncertain significance
rs768227565	4:106,155,475	G/A	—	uncertain significance
rs762762365	4:106,155,509	G/C	—	uncertain significance
rs138203452	4:106,155,512	A/T	—	uncertain significance
rs2476480324	4:106,155,517	A/G	—	uncertain significance
rs540228872	4:106,155,525	C/T	—	likely benign
rs114619974	4:106,155,533	G/A	—	likely benign
rs2476480594	4:106,155,534	T/G	—	uncertain significance
rs2476480726	4:106,155,540	G/C	—	uncertain significance
rs762666692	4:106,155,567	A/G	—	likely benign
rs763272294	4:106,155,577	G/A	—	uncertain significance
rs146031219	4:106,155,620	C/A	—	conflicting classifications of pathogenicity
rs531832525	4:106,155,627	T/A	—	uncertain significance
rs1224691808	4:106,155,652	C/T	—	pathogenic
rs200585520	4:106,155,673	T/C	—	uncertain significance
rs1728711651	4:106,155,675	C/A	—	pathogenic
rs201865755	4:106,155,705	C/T	—	likely benign
rs148683200	4:106,155,714	G/A	—	likely benign
rs142173406	4:106,155,750	C/T	—	likely benign
rs6843141	4:106,155,751	G/A	—	benign
rs780475086	4:106,155,773	T/C	—	uncertain significance
rs1560541449	4:106,155,809	G/A	—	uncertain significance
rs1205792605	4:106,155,819	T/C	—	likely benign
rs534182742	4:106,155,822	G/T	—	uncertain significance
rs377035231	4:106,155,843	C/A	—	uncertain significance
rs2476483192	4:106,155,844	A/G	—	uncertain significance
rs751983181	4:106,155,881	C/T	—	uncertain significance
rs1225633482	4:106,155,891	C/T	—	likely benign
rs370173624	4:106,155,898	C/T	—	uncertain significance
rs374509999	4:106,155,903	G/C	—	likely benign
rs1173572467	4:106,155,905	A/T	—	uncertain significance
rs533449541	4:106,155,924	T/G	—	uncertain significance
rs768670105	4:106,155,928	G/A	—	uncertain significance
rs776467845	4:106,155,930	A/C	—	likely benign
rs2476483849	4:106,155,931	C/T	—	pathogenic
rs766623771	4:106,155,963	A/G	—	likely benign
rs1422603971	4:106,155,978	T/C	—	likely benign
rs779875977	4:106,156,016	A/G	—	uncertain significance
rs145125867	4:106,156,019	T/G	—	uncertain significance
rs749415698	4:106,156,035	T/C	—	likely benign
rs1434577007	4:106,156,048	C/T	—	pathogenic
rs1337870077	4:106,156,050	G/C	—	uncertain significance
rs35215495	4:106,156,071	A/G	—	likely benign
rs201837804	4:106,156,077	A/G	—	likely benign
rs113631626	4:106,156,140	G/A	—	likely benign
rs370845238	4:106,156,143	T/C	—	likely benign
rs1223795843	4:106,156,160	C/G	—	pathogenic

Showing 100 of 520 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.