XDH

xanthine dehydrogenase

Summary

Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]

Known Variants686 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1684921207	2:31,557,223	C/T	—	uncertain significance
rs6752058	2:31,557,269	A/C	—	benign
rs1054889	2:31,557,308	G/A	—	benign
rs371568987	2:31,557,330	T/C	—	uncertain significance
rs886055940	2:31,557,333	T/C	—	uncertain significance
rs6710015	2:31,557,347	T/C	—	benign
rs886055941	2:31,557,372	G/A	—	uncertain significance
rs1443896769	2:31,557,407	T/C	—	uncertain significance
rs886055942	2:31,557,417	G/A	—	uncertain significance
rs778627537	2:31,557,486	C/A	—	uncertain significance
rs1684929386	2:31,557,560	C/T	—	uncertain significance
rs1684930619	2:31,557,604	G/A	—	uncertain significance
rs747801050	2:31,557,641	A/T	—	uncertain significance
rs886055943	2:31,557,730	T/G	—	uncertain significance
rs45488100	2:31,557,743	T/C	—	benign
rs116182082	2:31,557,762	A/G	—	uncertain significance
rs567451050	2:31,557,879	G/T	—	uncertain significance
rs193245354	2:31,557,886	C/A	—	uncertain significance
rs1041974360	2:31,557,911	A/T	—	uncertain significance
rs45456093	2:31,557,912	T/A	—	likely benign
rs544639351	2:31,557,943	C/T	—	uncertain significance
rs45532535	2:31,557,946	A/G	—	likely benign
rs886055944	2:31,557,995	C/T	—	uncertain significance
rs886055945	2:31,558,001	T/C	—	uncertain significance
rs1684942282	2:31,558,092	A/G	—	uncertain significance
rs1684942298	2:31,558,093	T/C	—	uncertain significance
rs542769393	2:31,558,125	G/A	—	uncertain significance
rs111248199	2:31,558,130	A/G	—	uncertain significance
rs1207826319	2:31,558,131	C/T	—	uncertain significance
rs1053588280	2:31,558,138	T/G	—	uncertain significance
rs1684944782	2:31,558,150	G/C	—	uncertain significance
rs563597138	2:31,558,196	T/C	—	uncertain significance
rs117803955	2:31,558,254	C/G	—	likely benign
rs1042039	2:31,558,306	C/T	—	benign
rs372973524	2:31,558,349	T/G	—	uncertain significance
rs966900952	2:31,558,387	G/A	—	uncertain significance
rs759403236	2:31,558,420	G/A	—	uncertain significance
rs1684951422	2:31,558,453	G/A	—	uncertain significance
rs45460500	2:31,558,516	G/T	—	uncertain significance
rs1684955370	2:31,558,604	C/A	—	uncertain significance
rs147693897	2:31,558,631	C/A	—	likely benign
rs569028479	2:31,558,719	G/C	—	uncertain significance
rs767465507	2:31,558,781	A/G	—	uncertain significance
rs45593434	2:31,558,783	C/G	—	benign
rs199714131	2:31,558,818	C/T	—	uncertain significance
rs780939136	2:31,558,832	T/C	—	uncertain significance
rs201358108	2:31,558,850	A/G	—	uncertain significance
rs2465290869	2:31,558,855	T/C	—	uncertain significance
rs893620757	2:31,558,867	G/C	—	uncertain significance
rs2295474	2:31,558,873	C/T	—	uncertain significance
rs2268800	2:31,559,095	G/C	—	benign
rs201055814	2:31,560,493	G/C	—	likely benign
rs112278370	2:31,560,502	C/A	—	uncertain significance
rs1169348675	2:31,560,510	G/A	—	likely benign
rs376342473	2:31,560,516	G/C	—	uncertain significance
rs141335716	2:31,560,521	T/C	—	likely benign
rs138936101	2:31,560,528	G/A	—	conflicting classifications of pathogenicity
rs138249576	2:31,560,538	C/T	—	conflicting classifications of pathogenicity
rs371280381	2:31,560,539	G/A	—	uncertain significance
rs763712363	2:31,560,550	G/A	—	uncertain significance
rs1339914096	2:31,560,560	G/C	—	uncertain significance
rs2465294244	2:31,560,564	G/C	—	uncertain significance
rs139691722	2:31,560,571	C/T	—	conflicting classifications of pathogenicity
rs45564939	2:31,560,572	A/G	—	likely benign
rs73922346	2:31,560,583	T/C	—	conflicting classifications of pathogenicity
rs191740294	2:31,560,587	C/T	—	uncertain significance
rs772149533	2:31,560,589	T/C	—	uncertain significance
rs374185976	2:31,560,591	A/G	—	likely benign
rs148477626	2:31,560,594	A/G	—	conflicting classifications of pathogenicity
rs751921838	2:31,560,611	G/A	—	pathogenic
rs768083545	2:31,560,620	G/A	—	uncertain significance
rs1572505922	2:31,560,629	C/G	—	uncertain significance
rs1685005387	2:31,560,636	G/A	—	likely benign
rs1572505950	2:31,560,663	G/A	—	likely benign
rs202077714	2:31,560,669	C/T	—	likely benign
rs2465294672	2:31,560,689	C/A	—	likely benign
rs746941389	2:31,560,690	A/G	—	uncertain significance
rs45505391	2:31,560,951	A/G	—	benign
rs45591431	2:31,562,323	G/C	—	likely benign
rs746738202	2:31,562,338	A/T	—	likely benign
rs202125003	2:31,562,340	C/T	—	conflicting classifications of pathogenicity
rs45594136	2:31,562,358	C/T	—	likely benign
rs372550886	2:31,562,361	T/A	—	conflicting classifications of pathogenicity
rs147253350	2:31,562,365	T/A	—	likely benign
rs2465297790	2:31,562,376	C/G	—	uncertain significance
rs151338723	2:31,562,391	G/A	—	likely benign
rs140606023	2:31,562,392	C/T	—	uncertain significance
rs142329784	2:31,562,393	G/A	—	uncertain significance
rs207440	2:31,562,412	T/C	—	benign
rs375290824	2:31,562,417	T/A	—	uncertain significance
rs201405596	2:31,562,436	C/T	—	likely benign
rs746081258	2:31,562,437	G/A	—	uncertain significance
rs770177408	2:31,562,452	C/T	—	uncertain significance
rs2465298002	2:31,562,458	C/A	—	uncertain significance
rs762431704	2:31,562,461	C/T	—	uncertain significance
rs148235835	2:31,562,464	G/A	—	uncertain significance
rs376191022	2:31,562,467	T/C	—	uncertain significance
rs202023189	2:31,562,480	C/T	—	uncertain significance
rs369252865	2:31,562,481	G/A	—	likely benign
rs143981573	2:31,562,482	G/T	—	conflicting classifications of pathogenicity

Showing 100 of 686 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.