MTHFR

methylenetetrahydrofolate reductase

Pharmacogene

Summary

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

Known Variants699 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886045169	1:11,846,248	A/G	—	uncertain significance
rs4846048	1:11,846,252	G/A	regulatory region variant	—
rs3737967	1:11,847,449	G/A	missense variant	—
rs528653413	1:11,847,709	C/G	—	uncertain significance
rs114673809	1:11,847,760	G/A	regulatory region variant	—
rs1537514	1:11,848,068	G/C	missense variant	—
rs886045184	1:11,849,206	G/A	—	uncertain significance
rs868014	1:11,849,447	A/C	synonymous variant	—
rs915014	1:11,849,469	T/C	missense variant	—
rs886045187	1:11,849,719	T/C	—	uncertain significance
rs4846049	1:11,850,365	T/G	downstream gene variant	benign
rs55763075	1:11,850,434	C/T	—	—
rs775426360	1:11,850,619	G/C	—	likely benign
rs45482794	1:11,850,696	G/A	—	likely benign
rs547574100	1:11,850,730	C/T	—	uncertain significance
rs749490263	1:11,850,738	C/G	—	conflicting classifications of pathogenicity
rs768434408	1:11,850,739	A/G	stop lost	pathogenic
rs774321998	1:11,850,740	T/C	—	likely benign
rs45572531	1:11,850,749	C/T	—	likely benign
rs35737219	1:11,850,750	A/G	—	benign
rs2100493280	1:11,850,755	T/C	—	likely benign
rs1228526408	1:11,850,756	C/T	—	uncertain significance
rs1300052327	1:11,850,758	C/T	—	likely benign
rs145544233	1:11,850,759	G/A	—	uncertain significance
rs2100493398	1:11,850,761	A/C	—	uncertain significance
rs765930342	1:11,850,763	T/C	—	uncertain significance
rs776289670	1:11,850,764	C/T	—	likely benign
rs139586522	1:11,850,767	G/T	—	benign
rs2522806053	1:11,850,774	C/T	—	uncertain significance
rs200947520	1:11,850,776	G/T	—	benign
rs558230616	1:11,850,790	A/G	—	likely benign
rs1383645963	1:11,850,803	C/T	—	likely benign
rs2100493744	1:11,850,806	C/T	—	likely benign
rs1360182594	1:11,850,812	G/A	—	likely benign
rs756165045	1:11,850,816	C/T	—	uncertain significance
rs780005836	1:11,850,821	G/A	—	likely benign
rs370272345	1:11,850,822	T/C	—	uncertain significance
rs786204037	1:11,850,825	A/G	missense variant	pathogenic
rs199707466	1:11,850,830	G/A	—	likely benign
rs2100493955	1:11,850,833	G/A	—	likely benign
rs140496402	1:11,850,842	C/T	—	likely benign
rs2100494045	1:11,850,845	C/G	—	likely benign
rs926280775	1:11,850,848	G/C	—	uncertain significance
rs776034726	1:11,850,849	T/C	—	uncertain significance
rs572292225	1:11,850,851	G/A	—	likely benign
rs1644070450	1:11,850,863	G/A	—	likely benign
rs879406669	1:11,850,868	C/T	—	uncertain significance
rs199730437	1:11,850,869	G/A	—	likely benign
rs2100494373	1:11,850,872	G/A	—	likely benign
rs750866106	1:11,850,875	G/A	—	likely benign
rs756615138	1:11,850,876	T/C	—	likely benign
rs2522807821	1:11,850,878	C/T	—	likely benign
rs1644071318	1:11,850,885	A/T	—	uncertain significance
rs753917964	1:11,850,891	C/T	—	uncertain significance
rs373747884	1:11,850,892	G/A	—	uncertain significance
rs1293653587	1:11,850,893	G/A	—	likely benign
rs1407988165	1:11,850,896	C/T	—	likely benign
rs747938592	1:11,850,897	G/A	—	uncertain significance
rs758206023	1:11,850,900	G/C	missense variant	pathogenic
rs2100494839	1:11,850,902	C/T	—	likely benign
rs1644072699	1:11,850,905	C/T	—	likely benign
rs904238175	1:11,850,908	C/A	—	likely benign
rs2100495013	1:11,850,912	T/C	—	uncertain significance
rs786204034	1:11,850,915	A/G	missense variant	uncertain significance
rs776182425	1:11,850,920	T/C	—	likely benign
rs2522808827	1:11,850,922	C/A	—	likely pathogenic
rs2522808874	1:11,850,924	C/T	—	likely pathogenic
rs2274976	1:11,850,927	C/T	missense variant	likely benign
rs775066323	1:11,850,928	G/A	—	uncertain significance
rs372169679	1:11,850,929	C/T	—	likely benign
rs554668389	1:11,850,938	C/T	—	likely benign
rs2522809177	1:11,850,941	G/A	—	likely benign
rs115049252	1:11,850,947	G/A	—	conflicting classifications of pathogenicity
rs761226286	1:11,850,948	G/C	—	uncertain significance
rs375119199	1:11,850,953	G/A	—	likely benign
rs1557757184	1:11,850,958	A/C	—	uncertain significance
rs543808715	1:11,850,959	C/A	—	likely benign
rs1644075560	1:11,850,963	C/G	—	likely benign
rs2522810004	1:11,850,968	A/G	—	likely benign
rs565087518	1:11,850,969	C/T	—	likely benign
rs1203058283	1:11,850,970	C/G	—	likely benign
rs2522810204	1:11,850,971	C/T	—	likely benign
rs777661576	1:11,850,973	C/T	regulatory region variant	pathogenic
rs45578832	1:11,850,974	G/A	—	likely benign
rs757215390	1:11,850,975	C/A	—	likely benign
rs45622739	1:11,850,981	C/T	—	likely benign
rs3818762	1:11,851,003	G/C	—	benign
rs7518348	1:11,851,118	A/G	—	benign
rs55686944	1:11,851,185	T/C	—	benign
rs45529133	1:11,851,219	C/T	—	benign
rs368918767	1:11,851,248	C/G	—	likely benign
rs541364916	1:11,851,252	C/T	—	likely benign
rs45598534	1:11,851,253	G/A	—	likely benign
rs747846362	1:11,851,263	C/A	splice region variant	pathogenic
rs1644092513	1:11,851,266	T/A	—	pathogenic
rs1314085200	1:11,851,268	C/T	—	pathogenic
rs45590836	1:11,851,273	C/T	missense variant	uncertain significance
rs2522817279	1:11,851,279	G/A	—	likely benign
rs145052308	1:11,851,282	G/C	—	likely benign
rs926145376	1:11,851,285	G/A	—	likely benign

Showing 100 of 699 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.