FTO

FTO alpha-ketoglutarate dependent dioxygenase

Summary

This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

Known Variants346 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs749670451	16:53,737,887	A/T	—	uncertain significance
rs527438785	16:53,737,911	C/G	—	uncertain significance
rs997783930	16:53,737,929	C/G	—	uncertain significance
rs367716710	16:53,737,957	T/C	—	likely benign
rs886052100	16:53,737,960	G/C	—	uncertain significance
rs1234928109	16:53,737,975	C/G	—	uncertain significance
rs375031347	16:53,738,054	G/A	—	uncertain significance
rs1433938405	16:53,738,068	G/T	—	uncertain significance
rs770765317	16:53,738,091	G/A	—	uncertain significance
rs534074284	16:53,738,097	A/G	—	uncertain significance
rs765157936	16:53,738,103	C/T	—	uncertain significance
rs1161946063	16:53,738,104	G/C	—	uncertain significance
rs752817421	16:53,738,106	A/G	—	uncertain significance
rs115368866	16:53,738,108	C/G	—	benign
rs2544857861	16:53,738,133	G/T	—	uncertain significance
rs886052101	16:53,738,149	G/T	—	conflicting classifications of pathogenicity
rs1156303717	16:53,738,151	G/A	—	likely benign
rs1421084	16:53,757,740	A/G	intron variant	—
rs1421085	16:53,767,042	T/C	intron variant	risk factor
rs6499640	16:53,769,677	G/A	intron variant	—
rs16952479	16:53,770,578	A/T	intron variant	—
rs4548860	16:53,772,994	T/C	intron variant	—
rs1121980	16:53,782,363	T/C	intron variant	—
rs149715977	16:53,784,378	T/G	intron variant	—
rs1861868	16:53,790,402	C/T	regulatory region variant	—
rs1075440	16:53,790,906	G/A	regulatory region variant	—
rs11643744	16:53,791,798	G/A	intron variant	—
rs62048379	16:53,797,183	C/A	intron variant	—
rs7206790	16:53,797,908	C/G	intron variant	—
rs28429148	16:53,798,319	G/A	regulatory region variant	—
rs8047395	16:53,798,523	G/A	intron variant	—
rs57292959	16:53,799,279	G/T	—	—
rs9937053	16:53,799,507	G/A	intron variant	—
rs9928094	16:53,799,905	A/T	—	—
rs9930333	16:53,799,977	T/G	intron variant	—
rs9940278	16:53,800,200	C/T	intron variant	—
rs9939973	16:53,800,568	G/A	regulatory region variant	—
rs9940128	16:53,800,754	G/A	regulatory region variant	—
rs9923544	16:53,801,985	C/T	intron variant	—
rs11642015	16:53,802,494	C/G	—	—
rs62048402	16:53,803,223	G/A	intron variant	—
rs189959143	16:53,803,332	A/T	intron variant	—
rs1558902	16:53,803,574	T/A	intron variant	—
rs10852521	16:53,804,965	T/A	—	—
rs147870440	16:53,805,526	C/T	intron variant	—
rs1477196	16:53,808,258	A/G	intron variant	—
rs55872725	16:53,809,123	C/T	—	benign
rs7187250	16:53,810,546	C/G	—	—
rs7193144	16:53,810,686	T/C	intron variant	—
rs62033399	16:53,810,943	C/T	intron variant	—
rs62033400	16:53,811,788	A/G	intron variant	—
rs16945088	16:53,812,524	A/G	intron variant	—
rs8057044	16:53,812,614	G/A	intron variant	—
rs17817449	16:53,813,367	T/G	intron variant	benign
rs8043757	16:53,813,450	A/G	—	—
rs145904814	16:53,813,952	T/A	intron variant	—
rs149264883	16:53,814,827	A/C	intron variant	—
rs147413377	16:53,814,919	C/T	intron variant	—
rs17817497	16:53,815,435	T/C	regulatory region variant	—
rs8050136	16:53,816,275	C/A	regulatory region variant	—
rs8051591	16:53,816,752	A/G	intron variant	—
rs9935401	16:53,816,838	G/A	intron variant	—
rs181337907	16:53,816,963	C/G	intron variant	—
rs3751812	16:53,818,460	G/T	regulatory region variant	—
rs3751814	16:53,818,724	G/A	intron variant	—
rs56313538	16:53,818,834	A/C	—	—
rs9936385	16:53,819,169	T/C	regulatory region variant	—
rs9923233	16:53,819,198	G/A	—	—
rs11075989	16:53,819,877	C/A	—	—
rs11075990	16:53,819,893	A/G	intron variant	—
rs11075991	16:53,819,937	A/T	intron variant	—
rs11075992	16:53,820,066	T/C	intron variant	—
rs9926289	16:53,820,503	G/A	intron variant	—
rs9939609	16:53,820,527	T/A	intron variant	—
rs9937709	16:53,820,813	A/G	intron variant	—
rs9927317	16:53,820,996	C/A	—	—
rs17817712	16:53,821,125	A/G	intron variant	—
rs7206410	16:53,821,297	T/C	intron variant	—
rs12597786	16:53,821,307	C/G	—	—
rs7202116	16:53,821,615	A/G	regulatory region variant	—
rs7202296	16:53,821,690	A/G	intron variant	—
rs66908032	16:53,822,142	C/A	intron variant	—
rs72803697	16:53,822,183	C/T	intron variant	—
rs62033403	16:53,822,237	A/T	—	—
rs62033404	16:53,822,239	A/T	—	—
rs62033405	16:53,822,387	C/T	intron variant	—
rs7206122	16:53,822,440	G/A	intron variant	—
rs7190396	16:53,822,502	T/A	—	—
rs7185735	16:53,822,651	A/G	intron variant	—
rs2042031	16:53,823,718	G/A	intron variant	—
rs145076406	16:53,824,453	A/T	intron variant	—
rs9941349	16:53,825,488	C/T	intron variant	—
rs56137030	16:53,825,905	G/A	intron variant	—
rs28567725	16:53,826,028	T/C	intron variant	—
rs10468280	16:53,827,479	A/G	intron variant	—
rs62033408	16:53,827,962	A/G	intron variant	—
rs73612051	16:53,828,037	C/T	intron variant	—
rs17817964	16:53,828,066	C/G	—	—
rs9930506	16:53,830,465	A/G	intron variant	—
rs9932754	16:53,830,491	T/G	—	—

Showing 100 of 346 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.