DHODH

dihydroorotate dehydrogenase (quinone)

Summary

The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]

Known Variants155 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3213419	16:72,042,428	T/C	—	benign
rs3213420	16:72,042,433	C/T	—	benign
rs3213421	16:72,042,442	T/C	—	benign
rs34270657	16:72,042,635	G/A	—	likely benign
rs771428943	16:72,042,669	G/A	—	likely benign
rs1430616655	16:72,042,677	A/G	—	uncertain significance
rs3213422	16:72,042,682	A/C	missense variant	benign
rs3213423	16:72,042,825	G/T	—	benign
rs113616219	16:72,042,960	G/A	—	benign
rs12149380	16:72,043,546	G/C	upstream gene variant	—
rs770515591	16:72,045,938	C/T	—	conflicting classifications of pathogenicity
rs201486372	16:72,045,953	G/A	—	uncertain significance
rs267606765	16:72,045,983	G/A	missense variant	pathogenic
rs61753576	16:72,045,999	C/G	—	uncertain significance
rs200549060	16:72,046,000	G/A	—	conflicting classifications of pathogenicity
rs370288406	16:72,046,017	C/A	—	likely benign
rs779682949	16:72,046,020	G/C	—	likely benign
rs1440605788	16:72,046,022	G/T	—	uncertain significance
rs199675109	16:72,046,031	G/A	—	uncertain significance
rs375174980	16:72,046,067	G/A	—	conflicting classifications of pathogenicity
rs375435688	16:72,046,080	G/A	—	likely benign
rs368395651	16:72,046,081	G/C	—	uncertain significance
rs931958752	16:72,046,105	C/G	—	uncertain significance
rs375281379	16:72,046,106	G/A	—	uncertain significance
rs2544393248	16:72,046,115	C/T	—	uncertain significance
rs201823503	16:72,046,132	C/T	—	uncertain significance
rs113393105	16:72,046,201	G/A	—	likely benign
rs8057016	16:72,046,211	G/T	—	benign
rs1465457	16:72,046,268	C/G	—	benign
rs8058214	16:72,046,305	T/G	—	benign
rs16973619	16:72,047,499	C/G	—	—
rs4788600	16:72,048,080	G/T	—	benign
rs3764310	16:72,048,332	T/C	—	benign
rs768945419	16:72,048,399	C/T	—	uncertain significance
rs991090913	16:72,048,400	G/C	—	uncertain significance
rs61747639	16:72,048,431	C/T	—	likely benign
rs747517961	16:72,048,437	T/A	—	uncertain significance
rs1037111365	16:72,048,452	C/T	—	likely benign
rs561068542	16:72,048,453	G/A	—	uncertain significance
rs2506968368	16:72,048,492	A/G	—	uncertain significance
rs767309772	16:72,048,516	G/A	—	uncertain significance
rs201230446	16:72,048,540	C/T	missense variant	pathogenic
rs112904410	16:72,048,596	A/G	—	likely benign
rs8062895	16:72,048,632	A/G	—	benign
rs11075914	16:72,050,885	G/C	—	benign
rs367744039	16:72,050,903	C/T	—	likely benign
rs2278028	16:72,050,904	A/G	—	benign
rs779000304	16:72,050,941	C/T	—	likely benign
rs267606766	16:72,050,942	G/A	missense variant	pathogenic
rs61741731	16:72,050,945	C/A	—	benign
rs752511043	16:72,050,969	C/T	—	uncertain significance
rs768224976	16:72,050,980	G/T	—	uncertain significance
rs2506973148	16:72,050,982	A/T	—	uncertain significance
rs199920621	16:72,050,986	G/A	—	uncertain significance
rs1243279715	16:72,050,993	A/C	—	uncertain significance
rs758925798	16:72,051,013	G/A	—	uncertain significance
rs112128680	16:72,054,052	G/A	intron variant	—
rs1862752	16:72,054,984	T/G	—	benign
rs201023112	16:72,055,012	G/A	—	conflicting classifications of pathogenicity
rs983299629	16:72,055,046	T/C	—	likely benign
rs954515669	16:72,055,051	G/T	—	uncertain significance
rs2506981753	16:72,055,071	A/G	—	uncertain significance
rs752149904	16:72,055,072	C/T	—	likely benign
rs149123373	16:72,055,075	C/T	—	conflicting classifications of pathogenicity
rs746657681	16:72,055,076	G/A	—	uncertain significance
rs148523165	16:72,055,078	A/G	—	likely benign
rs2506981791	16:72,055,079	G/T	—	pathogenic
rs777478366	16:72,055,087	C/T	—	likely benign
rs201970636	16:72,055,088	G/A	—	likely benign
rs2506981846	16:72,055,095	G/T	—	uncertain significance
rs267606769	16:72,055,100	C/T	missense variant	pathogenic
rs267606767	16:72,055,110	G/A	missense variant	pathogenic
rs573177564	16:72,055,111	C/T	—	conflicting classifications of pathogenicity
rs780785810	16:72,055,121	G/A	—	uncertain significance
rs369556950	16:72,055,160	G/A	—	uncertain significance
rs528598713	16:72,055,171	C/G	—	uncertain significance
rs776932166	16:72,055,186	C/T	—	uncertain significance
rs201202896	16:72,055,187	G/A	—	conflicting classifications of pathogenicity
rs56387295	16:72,055,336	C/A	—	benign
rs761371223	16:72,056,254	G/A	—	likely benign
rs267606768	16:72,056,285	C/T	missense variant	uncertain significance
rs767012109	16:72,056,286	G/A	—	conflicting classifications of pathogenicity
rs370663370	16:72,056,295	A/G	—	uncertain significance
rs750085533	16:72,056,301	C/T	—	uncertain significance
rs565333133	16:72,056,302	G/A	—	likely benign
rs373893426	16:72,056,308	C/A	—	conflicting classifications of pathogenicity
rs61757214	16:72,056,320	C/T	—	likely benign
rs746024808	16:72,056,335	C/T	—	likely benign
rs374538940	16:72,056,359	C/T	—	conflicting classifications of pathogenicity
rs886052277	16:72,056,362	T/A	—	uncertain significance
rs114267707	16:72,056,384	G/A	—	likely benign
rs12446480	16:72,056,757	A/G	—	benign
rs369379668	16:72,057,054	C/T	—	likely benign
rs187604825	16:72,057,055	G/A	—	likely benign
rs886052278	16:72,057,064	T/C	—	uncertain significance
rs199626701	16:72,057,113	C/T	—	uncertain significance
rs369181023	16:72,057,125	G/A	—	uncertain significance
rs200181357	16:72,057,134	G/A	—	uncertain significance
rs758676746	16:72,057,141	A/G	—	likely benign
rs780869712	16:72,057,172	G/A	—	uncertain significance

Showing 100 of 155 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.