dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1801131
Current Build 155
Released April 9, 2021
- Organism
- Homo sapiens
- Position
-
chr1:11794419 (GRCh38.p13) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.246152 (65154/264690, TOPMED)G=0.288998 (72672/251462, GnomAD_exome)G=0.304170 (75950/249696, ALFA) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MTHFR : Missense Variant
- Publications
- 417 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 249696 | T=0.695830 | G=0.304170 |
| European | Sub | 211780 | T=0.686746 | G=0.313254 |
| African | Sub | 11466 | T=0.83124 | G=0.16876 |
| African Others | Sub | 368 | T=0.867 | G=0.133 |
| African American | Sub | 11098 | T=0.83006 | G=0.16994 |
| Asian | Sub | 884 | T=0.753 | G=0.247 |
| East Asian | Sub | 676 | T=0.786 | G=0.214 |
| Other Asian | Sub | 208 | T=0.649 | G=0.351 |
| Latin American 1 | Sub | 1278 | T=0.7809 | G=0.2191 |
| Latin American 2 | Sub | 5020 | T=0.8080 | G=0.1920 |
| South Asian | Sub | 5058 | T=0.5896 | G=0.4104 |
| Other | Sub | 14210 | T=0.70894 | G=0.29106 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | T=0.753848 | G=0.246152 |
| gnomAD - Exomes | Global | Study-wide | 251462 | T=0.711002 | G=0.288998 |
| gnomAD - Exomes | European | Sub | 135398 | T=0.681243 | G=0.318757 |
| gnomAD - Exomes | Asian | Sub | 49008 | T=0.66036 | G=0.33964 |
| gnomAD - Exomes | American | Sub | 34590 | T=0.84059 | G=0.15941 |
| gnomAD - Exomes | African | Sub | 16250 | T=0.84178 | G=0.15822 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | T=0.70585 | G=0.29415 |
| gnomAD - Exomes | Other | Sub | 6136 | T=0.7037 | G=0.2963 |
| Allele Frequency Aggregator | Total | Global | 249696 | T=0.695830 | G=0.304170 |
| Allele Frequency Aggregator | European | Sub | 211780 | T=0.686746 | G=0.313254 |
| Allele Frequency Aggregator | Other | Sub | 14210 | T=0.70894 | G=0.29106 |
| Allele Frequency Aggregator | African | Sub | 11466 | T=0.83124 | G=0.16876 |
| Allele Frequency Aggregator | South Asian | Sub | 5058 | T=0.5896 | G=0.4104 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5020 | T=0.8080 | G=0.1920 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1278 | T=0.7809 | G=0.2191 |
| Allele Frequency Aggregator | Asian | Sub | 884 | T=0.753 | G=0.247 |
| gnomAD - Genomes | Global | Study-wide | 139998 | T=0.741703 | G=0.258297 |
| gnomAD - Genomes | European | Sub | 75832 | T=0.68342 | G=0.31658 |
| gnomAD - Genomes | African | Sub | 41920 | T=0.83206 | G=0.16794 |
| gnomAD - Genomes | American | Sub | 13648 | T=0.79154 | G=0.20846 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | T=0.7026 | G=0.2974 |
| gnomAD - Genomes | East Asian | Sub | 3126 | T=0.7713 | G=0.2287 |
| gnomAD - Genomes | Other | Sub | 2150 | T=0.7367 | G=0.2633 |
| ExAC | Global | Study-wide | 121372 | T=0.704998 | G=0.295002 |
| ExAC | Europe | Sub | 73346 | T=0.68143 | G=0.31857 |
| ExAC | Asian | Sub | 25150 | T=0.65360 | G=0.34640 |
| ExAC | American | Sub | 11574 | T=0.84448 | G=0.15552 |
| ExAC | African | Sub | 10394 | T=0.84116 | G=0.15884 |
| ExAC | Other | Sub | 908 | T=0.696 | G=0.304 |
| The PAGE Study | Global | Study-wide | 78690 | T=0.80494 | G=0.19506 |
| The PAGE Study | AfricanAmerican | Sub | 32510 | T=0.83221 | G=0.16779 |
| The PAGE Study | Mexican | Sub | 10810 | T=0.82387 | G=0.17613 |
| The PAGE Study | Asian | Sub | 8318 | T=0.7977 | G=0.2023 |
| The PAGE Study | PuertoRican | Sub | 7916 | T=0.7554 | G=0.2446 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | T=0.7660 | G=0.2340 |
| The PAGE Study | Cuban | Sub | 4228 | T=0.7420 | G=0.2580 |
| The PAGE Study | Dominican | Sub | 3826 | T=0.8014 | G=0.1986 |
| The PAGE Study | CentralAmerican | Sub | 2450 | T=0.8420 | G=0.1580 |
| The PAGE Study | SouthAmerican | Sub | 1982 | T=0.8068 | G=0.1932 |
| The PAGE Study | NativeAmerican | Sub | 1260 | T=0.7294 | G=0.2706 |
| The PAGE Study | SouthAsian | Sub | 856 | T=0.593 | G=0.407 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.80304 | G=0.19696 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | T=0.74043 | G=0.25957 |
| GO Exome Sequencing Project | European American | Sub | 8600 | T=0.6869 | G=0.3131 |
| GO Exome Sequencing Project | African American | Sub | 4406 | T=0.8450 | G=0.1550 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.7506 | G=0.2494 |
| 1000Genomes | African | Sub | 1322 | T=0.8487 | G=0.1513 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.7808 | G=0.2192 |
| 1000Genomes | Europe | Sub | 1006 | T=0.6869 | G=0.3131 |
| 1000Genomes | South Asian | Sub | 978 | T=0.583 | G=0.417 |
| 1000Genomes | American | Sub | 694 | T=0.849 | G=0.151 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.6933 | G=0.3067 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.6868 | G=0.3132 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.6750 | G=0.3250 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | T=0.8244 | G=0.1756 |
| HapMap | Global | Study-wide | 1892 | T=0.7548 | G=0.2452 |
| HapMap | American | Sub | 770 | T=0.713 | G=0.287 |
| HapMap | African | Sub | 692 | T=0.805 | G=0.195 |
| HapMap | Asian | Sub | 254 | T=0.795 | G=0.205 |
| HapMap | Europe | Sub | 176 | T=0.682 | G=0.318 |
| PharmGKB Aggregated | Global | Study-wide | 1078 | T=0.7458 | G=0.2542 |
| PharmGKB Aggregated | PA129696324 | Sub | 598 | T=0.704 | G=0.296 |
| PharmGKB Aggregated | PA142251282 | Sub | 480 | T=0.798 | G=0.202 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.678 | G=0.322 |
| Chileans | Chilean | Study-wide | 626 | T=0.768 | G=0.232 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 611 | T=0.736 | G=0.264 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.668 | G=0.332 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | T=0.699 | G=0.301 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | T=0.684 | G=0.316 |
| SGDP_PRJ | Global | Study-wide | 272 | T=0.423 | G=0.577 |
| Qatari | Global | Study-wide | 216 | T=0.653 | G=0.347 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 88 | T=0.82 | G=0.18 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.55 | G=0.45 |
| Siberian | Global | Study-wide | 30 | T=0.50 | G=0.50 |
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
| Sequence name | Change |
|---|---|
| GRCh38.p13 chr 1 | NC_000001.11:g.11794419T>G |
| GRCh37.p13 chr 1 | NC_000001.10:g.11854476T>G |
| MTHFR RefSeqGene (LRG_726) | NG_013351.1:g.16685A>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MTHFR transcript variant 2 | NM_005957.5:c.1286A>C | E [GAA] > A [GCA] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform 2 | NP_005948.3:p.Glu429Ala | E (Glu) > A (Ala) | Missense Variant |
| MTHFR transcript variant 1 | NM_001330358.2:c.1409A>C | E [GAA] > A [GCA] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform 1 | NP_001317287.1:p.Glu470Ala | E (Glu) > A (Ala) | Missense Variant |
| MTHFR transcript variant X4 | XM_005263462.4:c.1286A>C | E [GAA] > A [GCA] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform X4 | XP_005263519.1:p.Glu429Ala | E (Glu) > A (Ala) | Missense Variant |
| MTHFR transcript variant X1 | XM_011541495.3:c.1406A>C | E [GAA] > A [GCA] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform X1 | XP_011539797.1:p.Glu469Ala | E (Glu) > A (Ala) | Missense Variant |
| MTHFR transcript variant X2 | XM_011541496.3:c.1409A>C | E [GAA] > A [GCA] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform X2 | XP_011539798.1:p.Glu470Ala | E (Glu) > A (Ala) | Missense Variant |
| MTHFR transcript variant X3 | XM_005263460.5:c.1286A>C | E [GAA] > A [GCA] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform X3 | XP_005263517.1:p.Glu429Ala | E (Glu) > A (Ala) | Missense Variant |
| MTHFR transcript variant X5 | XM_017001328.2:c.1409A>C | E [GAA] > A [GCA] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform X5 | XP_016856817.1:p.Glu470Ala | E (Glu) > A (Ala) | Missense Variant |
| MTHFR transcript variant X6 | XM_005263463.4:c.1040A>C | E [GAA] > A [GCA] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform X8 | XP_005263520.1:p.Glu347Ala | E (Glu) > A (Ala) | Missense Variant |
| MTHFR transcript variant X7 | XM_024447198.1:c.1040A>C | E [GAA] > A [GCA] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform X5 | XP_024302966.1:p.Glu347Ala | E (Glu) > A (Ala) | Missense Variant |
| MTHFR transcript variant X8 | XR_002956640.1:n.2387A>C | N/A | Non Coding Transcript Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000003698.4 | MTHFR deficiency, thermolabile type | Benign |
| RCV000003699.4 | Schizophrenia, susceptibility to | Risk-Factor |
| RCV000144922.1 | Gastrointestinal stromal tumor | Uncertain-Significance |
| RCV000153515.7 | not provided | Uncertain-Significance,Other |
| RCV000350590.3 | Neural tube defects, folate-sensitive | Benign |
| RCV000430863.4 | not specified | Benign |
| RCV001197542.1 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | Likely-Pathogenic |
| RCV001273149.1 | Homocystinuria due to MTHFR deficiency | Benign |
| RCV001283666.1 | none provided | Benign |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | T= | G |
|---|---|---|
| GRCh38.p13 chr 1 | NC_000001.11:g.11794419= | NC_000001.11:g.11794419T>G |
| GRCh37.p13 chr 1 | NC_000001.10:g.11854476= | NC_000001.10:g.11854476T>G |
| MTHFR RefSeqGene (LRG_726) | NG_013351.1:g.16685= | NG_013351.1:g.16685A>C |
| MTHFR transcript variant 2 | NM_005957.5:c.1286= | NM_005957.5:c.1286A>C |
| MTHFR transcript variant 2 | NM_005957.4:c.1286= | NM_005957.4:c.1286A>C |
| MTHFR transcript variant 1 | NM_001330358.2:c.1409= | NM_001330358.2:c.1409A>C |
| MTHFR transcript variant 1 | NM_001330358.1:c.1409= | NM_001330358.1:c.1409A>C |
| MTHFR transcript variant X3 | XM_005263460.5:c.1286= | XM_005263460.5:c.1286A>C |
| MTHFR transcript variant X3 | XM_005263460.1:c.1286= | XM_005263460.1:c.1286A>C |
| MTHFR transcript variant X6 | XM_005263463.4:c.1040= | XM_005263463.4:c.1040A>C |
| MTHFR transcript variant X6 | XM_005263463.1:c.1040= | XM_005263463.1:c.1040A>C |
| MTHFR transcript variant X4 | XM_005263462.4:c.1286= | XM_005263462.4:c.1286A>C |
| MTHFR transcript variant X5 | XM_005263462.1:c.1286= | XM_005263462.1:c.1286A>C |
| MTHFR transcript variant X1 | XM_011541495.3:c.1406= | XM_011541495.3:c.1406A>C |
| MTHFR transcript variant X2 | XM_011541496.3:c.1409= | XM_011541496.3:c.1409A>C |
| MTHFR transcript variant X5 | XM_017001328.2:c.1409= | XM_017001328.2:c.1409A>C |
| MTHFR transcript variant X8 | XR_002956640.1:n.2387= | XR_002956640.1:n.2387A>C |
| MTHFR transcript variant X7 | XM_024447198.1:c.1040= | XM_024447198.1:c.1040A>C |
| methylenetetrahydrofolate reductase isoform 2 | NP_005948.3:p.Glu429= | NP_005948.3:p.Glu429Ala |
| methylenetetrahydrofolate reductase isoform 1 | NP_001317287.1:p.Glu470= | NP_001317287.1:p.Glu470Ala |
| methylenetetrahydrofolate reductase isoform X3 | XP_005263517.1:p.Glu429= | XP_005263517.1:p.Glu429Ala |
| methylenetetrahydrofolate reductase isoform X8 | XP_005263520.1:p.Glu347= | XP_005263520.1:p.Glu347Ala |
| methylenetetrahydrofolate reductase isoform X4 | XP_005263519.1:p.Glu429= | XP_005263519.1:p.Glu429Ala |
| methylenetetrahydrofolate reductase isoform X1 | XP_011539797.1:p.Glu469= | XP_011539797.1:p.Glu469Ala |
| methylenetetrahydrofolate reductase isoform X2 | XP_011539798.1:p.Glu470= | XP_011539798.1:p.Glu470Ala |
| methylenetetrahydrofolate reductase isoform X5 | XP_016856817.1:p.Glu470= | XP_016856817.1:p.Glu470Ala |
| methylenetetrahydrofolate reductase isoform X5 | XP_024302966.1:p.Glu347= | XP_024302966.1:p.Glu347Ala |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SNP500CANCER | ss5586779 | Jul 02, 2003 (116) |
| 2 | PERLEGEN | ss24238726 | Sep 20, 2004 (123) |
| 3 | MGC_GENOME_DIFF | ss28511728 | Sep 24, 2004 (126) |
| 4 | APPLERA_GI | ss48422848 | Mar 11, 2006 (126) |
| 5 | EGP_SNPS | ss66858861 | Nov 30, 2006 (127) |
| 6 | PERLEGEN | ss68758611 | May 17, 2007 (127) |
| 7 | PHARMGKB_PPII | ss69366965 | May 17, 2007 (127) |
| 8 | PHARMGKB_PAAR-SJCRH | ss69369712 | May 17, 2007 (127) |
| 9 | EGP_SNPS | ss70457114 | May 17, 2007 (127) |
| 10 | ILLUMINA | ss74857096 | Dec 07, 2007 (129) |
| 11 | AFFY | ss76837638 | Dec 07, 2007 (129) |
| 12 | CGM_KYOTO | ss76875015 | Dec 07, 2007 (129) |
| 13 | SI_EXO | ss76885974 | Dec 07, 2007 (129) |
| 14 | BCMHGSC_JDW | ss87223193 | Mar 23, 2008 (129) |
| 15 | KRIBB_YJKIM | ss104853748 | Feb 04, 2009 (130) |
| 16 | 1000GENOMES | ss107994577 | Jan 22, 2009 (130) |
| 17 | ILLUMINA | ss153736620 | Dec 01, 2009 (131) |
| 18 | ILLUMINA | ss159329788 | Dec 01, 2009 (131) |
| 19 | SEATTLESEQ | ss159696088 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss160462978 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss161109488 | Dec 01, 2009 (131) |
| 22 | COMPLETE_GENOMICS | ss163832389 | Jul 04, 2010 (132) |
| 23 | COMPLETE_GENOMICS | ss166100280 | Jul 04, 2010 (132) |
| 24 | OMICIA | ss169653271 | Feb 08, 2013 (137) |
| 25 | ILLUMINA | ss172925323 | Jul 04, 2010 (132) |
| 26 | BUSHMAN | ss198024814 | Jul 04, 2010 (132) |
| 27 | 1000GENOMES | ss218238427 | Jul 14, 2010 (132) |
| 28 | 1000GENOMES | ss230427627 | Jul 14, 2010 (132) |
| 29 | 1000GENOMES | ss238142816 | Jul 15, 2010 (132) |
| 30 | ILLUMINA | ss244285107 | Jul 04, 2010 (132) |
| 31 | GMI | ss275715268 | May 04, 2012 (137) |
| 32 | NHLBI-ESP | ss341933180 | May 09, 2011 (134) |
| 33 | ILLUMINA | ss410916066 | Sep 17, 2011 (135) |
| 34 | ILLUMINA | ss480300860 | May 04, 2012 (137) |
| 35 | ILLUMINA | ss480311971 | May 04, 2012 (137) |
| 36 | ILLUMINA | ss481067707 | Sep 08, 2015 (146) |
| 37 | ILLUMINA | ss482077093 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss483026000 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss484948242 | May 04, 2012 (137) |
| 40 | ILLUMINA | ss485814760 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss485827452 | May 04, 2012 (137) |
| 42 | 1000GENOMES | ss489720996 | May 04, 2012 (137) |
| 43 | EXOME_CHIP | ss491286264 | May 04, 2012 (137) |
| 44 | CLINSEQ_SNP | ss491584587 | May 04, 2012 (137) |
| 45 | ILLUMINA | ss536992425 | Sep 08, 2015 (146) |
| 46 | TISHKOFF | ss553801705 | Apr 25, 2013 (138) |
| 47 | SSMP | ss647577754 | Apr 25, 2013 (138) |
| 48 | ILLUMINA | ss778841541 | Aug 21, 2014 (142) |
| 49 | ILLUMINA | ss782920429 | Aug 21, 2014 (142) |
| 50 | ILLUMINA | ss783353224 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss783883459 | Aug 21, 2014 (142) |
| 52 | ILLUMINA | ss832175555 | Apr 01, 2015 (144) |
| 53 | ILLUMINA | ss832615296 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss832841797 | Aug 21, 2014 (142) |
| 55 | ILLUMINA | ss833432627 | Aug 21, 2014 (142) |
| 56 | ILLUMINA | ss834302099 | Aug 21, 2014 (142) |
| 57 | JMKIDD_LAB | ss974433218 | Aug 21, 2014 (142) |
| 58 | EVA-GONL | ss974860132 | Aug 21, 2014 (142) |
| 59 | JMKIDD_LAB | ss1067416153 | Aug 21, 2014 (142) |
| 60 | JMKIDD_LAB | ss1067672514 | Aug 21, 2014 (142) |
| 61 | 1000GENOMES | ss1289701094 | Aug 21, 2014 (142) |
| 62 | DDI | ss1425713661 | Apr 01, 2015 (144) |
| 63 | EVA_GENOME_DK | ss1573889298 | Apr 01, 2015 (144) |
| 64 | EVA_FINRISK | ss1584004667 | Apr 01, 2015 (144) |
| 65 | EVA_DECODE | ss1584218270 | Apr 01, 2015 (144) |
| 66 | EVA_UK10K_ALSPAC | ss1599557503 | Apr 01, 2015 (144) |
| 67 | EVA_UK10K_TWINSUK | ss1642551536 | Apr 01, 2015 (144) |
| 68 | EVA_EXAC | ss1685304130 | Apr 01, 2015 (144) |
| 69 | EVA_MGP | ss1710888349 | Apr 01, 2015 (144) |
| 70 | EVA_SVP | ss1712311445 | Apr 01, 2015 (144) |
| 71 | ILLUMINA | ss1751866509 | Sep 08, 2015 (146) |
| 72 | ILLUMINA | ss1751866510 | Sep 08, 2015 (146) |
| 73 | HAMMER_LAB | ss1793911316 | Sep 08, 2015 (146) |
| 74 | WEILL_CORNELL_DGM | ss1918060020 | Feb 12, 2016 (147) |
| 75 | ILLUMINA | ss1958241681 | Feb 12, 2016 (147) |
| 76 | JJLAB | ss2019543883 | Sep 14, 2016 (149) |
| 77 | ILLUMINA | ss2094782417 | Dec 20, 2016 (150) |
| 78 | ILLUMINA | ss2094952952 | Dec 20, 2016 (150) |
| 79 | USC_VALOUEV | ss2147541927 | Dec 20, 2016 (150) |
| 80 | HUMAN_LONGEVITY | ss2160086362 | Dec 20, 2016 (150) |
| 81 | TOPMED | ss2322244218 | Dec 20, 2016 (150) |
| 82 | SYSTEMSBIOZJU | ss2624288334 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss2632478005 | Nov 08, 2017 (151) |
| 84 | ILLUMINA | ss2632478006 | Nov 08, 2017 (151) |
| 85 | ILLUMINA | ss2632478007 | Nov 08, 2017 (151) |
| 86 | GRF | ss2697438501 | Nov 08, 2017 (151) |
| 87 | ILLUMINA | ss2710665780 | Nov 08, 2017 (151) |
| 88 | GNOMAD | ss2731121598 | Nov 08, 2017 (151) |
| 89 | GNOMAD | ss2746215804 | Nov 08, 2017 (151) |
| 90 | GNOMAD | ss2751673899 | Nov 08, 2017 (151) |
| 91 | AFFY | ss2984845368 | Nov 08, 2017 (151) |
| 92 | AFFY | ss2985498872 | Nov 08, 2017 (151) |
| 93 | SWEGEN | ss2986303436 | Nov 08, 2017 (151) |
| 94 | ILLUMINA | ss3021054743 | Nov 08, 2017 (151) |
| 95 | BIOINF_KMB_FNS_UNIBA | ss3023536209 | Nov 08, 2017 (151) |
| 96 | TOPMED | ss3068711127 | Nov 08, 2017 (151) |
| 97 | CSHL | ss3343319565 | Nov 08, 2017 (151) |
| 98 | ILLUMINA | ss3625525391 | Oct 11, 2018 (152) |
| 99 | ILLUMINA | ss3626027083 | Oct 11, 2018 (152) |
| 100 | ILLUMINA | ss3630516371 | Oct 11, 2018 (152) |
| 101 | ILLUMINA | ss3632880911 | Oct 11, 2018 (152) |
| 102 | ILLUMINA | ss3632880912 | Oct 11, 2018 (152) |
| 103 | ILLUMINA | ss3633574745 | Oct 11, 2018 (152) |
| 104 | ILLUMINA | ss3633574746 | Oct 11, 2018 (152) |
| 105 | ILLUMINA | ss3634307042 | Oct 11, 2018 (152) |
| 106 | ILLUMINA | ss3634307043 | Oct 11, 2018 (152) |
| 107 | ILLUMINA | ss3635268867 | Oct 11, 2018 (152) |
| 108 | ILLUMINA | ss3635268868 | Oct 11, 2018 (152) |
| 109 | ILLUMINA | ss3635983170 | Oct 11, 2018 (152) |
| 110 | ILLUMINA | ss3635983171 | Oct 11, 2018 (152) |
| 111 | ILLUMINA | ss3637019234 | Oct 11, 2018 (152) |
| 112 | ILLUMINA | ss3637019235 | Oct 11, 2018 (152) |
| 113 | ILLUMINA | ss3637737577 | Oct 11, 2018 (152) |
| 114 | ILLUMINA | ss3640014406 | Oct 11, 2018 (152) |
| 115 | ILLUMINA | ss3640014407 | Oct 11, 2018 (152) |
| 116 | OMUKHERJEE_ADBS | ss3646221381 | Oct 11, 2018 (152) |
| 117 | ILLUMINA | ss3651378700 | Oct 11, 2018 (152) |
| 118 | ILLUMINA | ss3651378701 | Oct 11, 2018 (152) |
| 119 | ILLUMINA | ss3653619004 | Oct 11, 2018 (152) |
| 120 | EGCUT_WGS | ss3654404268 | Jul 12, 2019 (153) |
| 121 | EVA_DECODE | ss3686172724 | Jul 12, 2019 (153) |
| 122 | ILLUMINA | ss3724996793 | Jul 12, 2019 (153) |
| 123 | ACPOP | ss3726794173 | Jul 12, 2019 (153) |
| 124 | ILLUMINA | ss3744608024 | Jul 12, 2019 (153) |
| 125 | ILLUMINA | ss3744608025 | Jul 12, 2019 (153) |
| 126 | EVA | ss3745835067 | Jul 12, 2019 (153) |
| 127 | PAGE_CC | ss3770785800 | Jul 12, 2019 (153) |
| 128 | ILLUMINA | ss3772109631 | Jul 12, 2019 (153) |
| 129 | ILLUMINA | ss3772109632 | Jul 12, 2019 (153) |
| 130 | KHV_HUMAN_GENOMES | ss3798855395 | Jul 12, 2019 (153) |
| 131 | EVA | ss3823560250 | Apr 25, 2020 (154) |
| 132 | EVA | ss3825553533 | Apr 25, 2020 (154) |
| 133 | EVA | ss3826025668 | Apr 25, 2020 (154) |
| 134 | EVA | ss3836399871 | Apr 25, 2020 (154) |
| 135 | EVA | ss3841804034 | Apr 25, 2020 (154) |
| 136 | SGDP_PRJ | ss3848203197 | Apr 25, 2020 (154) |
| 137 | KRGDB | ss3893088576 | Apr 25, 2020 (154) |
| 138 | FSA-LAB | ss3983916097 | Apr 25, 2021 (155) |
| 139 | FSA-LAB | ss3983916098 | Apr 25, 2021 (155) |
| 140 | EVA | ss3984778760 | Apr 25, 2021 (155) |
| 141 | EVA | ss3986099127 | Apr 25, 2021 (155) |
| 142 | EVA | ss4016893530 | Apr 25, 2021 (155) |
| 143 | TOPMED | ss4439375809 | Apr 25, 2021 (155) |
| 144 | TOMMO_GENOMICS | ss5142497749 | Apr 25, 2021 (155) |
| 145 | EVA | ss5236864261 | Apr 25, 2021 (155) |
| 146 | EVA | ss5237159245 | Apr 25, 2021 (155) |
| 147 | 1000Genomes | NC_000001.10 - 11854476 | Oct 11, 2018 (152) |
| 148 | The Avon Longitudinal Study of Parents and Children | NC_000001.10 - 11854476 | Oct 11, 2018 (152) |
| 149 | Chileans | NC_000001.10 - 11854476 | Apr 25, 2020 (154) |
| 150 | Genetic variation in the Estonian population | NC_000001.10 - 11854476 | Oct 11, 2018 (152) |
| 151 | ExAC | NC_000001.10 - 11854476 | Oct 11, 2018 (152) |
| 152 | FINRISK | NC_000001.10 - 11854476 | Apr 25, 2020 (154) |
| 153 | The Danish reference pan genome | NC_000001.10 - 11854476 | Apr 25, 2020 (154) |
| 154 | gnomAD - Genomes | NC_000001.11 - 11794419 | Apr 25, 2021 (155) |
| 155 | gnomAD - Exomes | NC_000001.10 - 11854476 | Jul 12, 2019 (153) |
| 156 | GO Exome Sequencing Project | NC_000001.10 - 11854476 | Oct 11, 2018 (152) |
| 157 | Genome of the Netherlands Release 5 | NC_000001.10 - 11854476 | Apr 25, 2020 (154) |
| 158 | HapMap | NC_000001.11 - 11794419 | Apr 25, 2020 (154) |
| 159 | KOREAN population from KRGDB | NC_000001.10 - 11854476 | Apr 25, 2020 (154) |
| 160 | Medical Genome Project healthy controls from Spanish population | NC_000001.10 - 11854476 | Apr 25, 2020 (154) |
| 161 | Northern Sweden | NC_000001.10 - 11854476 | Jul 12, 2019 (153) |
| 162 | The PAGE Study | NC_000001.11 - 11794419 | Jul 12, 2019 (153) |
| 163 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000001.10 - 11854476 | Apr 25, 2021 (155) |
| 164 | PharmGKB Aggregated | NC_000001.11 - 11794419 | Apr 25, 2020 (154) |
| 165 | Qatari | NC_000001.10 - 11854476 | Apr 25, 2020 (154) |
| 166 | SGDP_PRJ | NC_000001.10 - 11854476 | Apr 25, 2020 (154) |
| 167 | Siberian | NC_000001.10 - 11854476 | Apr 25, 2020 (154) |
| 168 | 8.3KJPN | NC_000001.10 - 11854476 | Apr 25, 2021 (155) |
| 169 | TopMed | NC_000001.11 - 11794419 | Apr 25, 2021 (155) |
| 170 | UK 10K study - Twins | NC_000001.10 - 11854476 | Oct 11, 2018 (152) |
| 171 | A Vietnamese Genetic Variation Database | NC_000001.10 - 11854476 | Jul 12, 2019 (153) |
| 172 | ALFA | NC_000001.11 - 11794419 | Apr 25, 2021 (155) |
| 173 | ClinVar | RCV000003698.4 | Oct 11, 2018 (152) |
| 174 | ClinVar | RCV000003699.4 | Oct 11, 2018 (152) |
| 175 | ClinVar | RCV000144922.1 | Oct 11, 2018 (152) |
| 176 | ClinVar | RCV000153515.7 | Apr 25, 2020 (154) |
| 177 | ClinVar | RCV000350590.3 | Apr 25, 2021 (155) |
| 178 | ClinVar | RCV000430863.4 | Apr 25, 2021 (155) |
| 179 | ClinVar | RCV001197542.1 | Apr 25, 2021 (155) |
| 180 | ClinVar | RCV001273149.1 | Apr 25, 2021 (155) |
| 181 | ClinVar | RCV001283666.1 | Apr 25, 2021 (155) |
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs4134712 | Nov 14, 2002 (109) |
| rs17367365 | Oct 07, 2004 (123) |
| rs17857426 | Mar 11, 2006 (126) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss87223193, ss107994577, ss160462978, ss161109488, ss163832389, ss166100280, ss198024814, ss244285107, ss275715268, ss480300860, ss485827452, ss491584587, ss1584218270, ss1712311445 | NC_000001.9:11777062:T:G | NC_000001.11:11794418:T:G | (self) |
| 377811, 196940, 1760, 142516, 4483564, 1128, 1390881, 137855, 18976, 83875, 265970, 5101, 79038, 4687, 101950, 220177, 58281, 467056, 196940, 41175, ss218238427, ss230427627, ss238142816, ss341933180, ss480311971, ss481067707, ss482077093, ss483026000, ss484948242, ss485814760, ss489720996, ss491286264, ss536992425, ss553801705, ss647577754, ss778841541, ss782920429, ss783353224, ss783883459, ss832175555, ss832615296, ss832841797, ss833432627, ss834302099, ss974433218, ss974860132, ss1067416153, ss1067672514, ss1289701094, ss1425713661, ss1573889298, ss1584004667, ss1599557503, ss1642551536, ss1685304130, ss1710888349, ss1751866509, ss1751866510, ss1793911316, ss1918060020, ss1958241681, ss2019543883, ss2094782417, ss2094952952, ss2147541927, ss2322244218, ss2624288334, ss2632478005, ss2632478006, ss2632478007, ss2697438501, ss2710665780, ss2731121598, ss2746215804, ss2751673899, ss2984845368, ss2985498872, ss2986303436, ss3021054743, ss3343319565, ss3625525391, ss3626027083, ss3630516371, ss3632880911, ss3632880912, ss3633574745, ss3633574746, ss3634307042, ss3634307043, ss3635268867, ss3635268868, ss3635983170, ss3635983171, ss3637019234, ss3637019235, ss3637737577, ss3640014406, ss3640014407, ss3646221381, ss3651378700, ss3651378701, ss3653619004, ss3654404268, ss3726794173, ss3744608024, ss3744608025, ss3745835067, ss3772109631, ss3772109632, ss3823560250, ss3825553533, ss3826025668, ss3836399871, ss3848203197, ss3893088576, ss3983916097, ss3983916098, ss3984778760, ss3986099127, ss4016893530, ss5142497749 | NC_000001.10:11854475:T:G | NC_000001.11:11794418:T:G | (self) |
| RCV000003698.4, RCV000003699.4, RCV000144922.1, RCV000153515.7, RCV000350590.3, RCV000430863.4, RCV001197542.1, RCV001273149.1, RCV001283666.1, 2628843, 14059, 7269, 21, 1876538, 2982144, 6336472628, ss169653271, ss2160086362, ss3023536209, ss3068711127, ss3686172724, ss3724996793, ss3770785800, ss3798855395, ss3841804034, ss4439375809, ss5236864261, ss5237159245 | NC_000001.11:11794418:T:G | NC_000001.11:11794418:T:G | (self) |
| ss76885974 | NT_021937.18:6391842:T:G | NC_000001.11:11794418:T:G | (self) |
| ss5586779, ss24238726, ss28511728, ss48422848, ss66858861, ss68758611, ss69366965, ss69369712, ss70457114, ss74857096, ss76837638, ss76875015, ss104853748, ss153736620, ss159329788, ss159696088, ss172925323, ss410916066 | NT_021937.19:7859207:T:G | NC_000001.11:11794418:T:G | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 9545395 | A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? | van der Put NM et al. | 1998 | American journal of human genetics |
| 10677336 | The 1298(A-->C) mutation of methylenetetrahydrofolate reductase should be designated to the 1289 position of the gene. | Donnelly JG et al. | 2000 | American journal of human genetics |
| 10958762 | Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations. | Isotalo PA et al. | 2000 | American journal of human genetics |
| 11590551 | Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations--and in utero viability. | Volcik KA et al. | 2001 | American journal of human genetics |
| 11742092 | Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase. | Yamada K et al. | 2001 | Proceedings of the National Academy of Sciences of the United States of America |
| 11752418 | Genetic diversity and disease: opportunities and challenge. | Scott JM et al. | 2001 | Proceedings of the National Academy of Sciences of the United States of America |
| 11781870 | The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans. | Rosenberg N et al. | 2002 | American journal of human genetics |
| 11938441 | Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. | Zetterberg H et al. | 2002 | European journal of human genetics |
| 12560871 | Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis. | Ogino S et al. | 2003 | Journal of human genetics |
| 14724163 | Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases. | Crabtree MD et al. | 2004 | Gut |
| 15103709 | Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women. | Boduroğlu K et al. | 2004 | American journal of medical genetics. Part A |
| 15951337 | Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene. | Hobbs CA et al. | 2006 | Journal of medical genetics |
| 16244782 | Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population. | Kumar J et al. | 2005 | Journal of human genetics |
| 16372906 | Failure to confirm influence of methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease. | Hansen W et al. | 2005 | Journal of negative results in biomedicine |
| 16642433 | Polymorphism in maternal LRP8 gene is associated with fetal growth. | Wang L et al. | 2006 | American journal of human genetics |
| 17035141 | Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. | Boyles AL et al. | 2006 | Environmental health perspectives |
| 17119116 | Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. | Lim U et al. | 2007 | Blood |
| 17301261 | Dietary folate intake, MTHFR genetic polymorphisms, and the risk of endometrial cancer among Chinese women. | Xu WH et al. | 2007 | Cancer epidemiology, biomarkers & prevention |
| 17659576 | Genetic polymorphisms in the methylenetetrahydrofolate reductase and thymidylate synthase genes and risk of hepatocellular carcinoma. | Yuan JM et al. | 2007 | Hepatology (Baltimore, Md.) |
| 17697348 | Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE). | Ekstrøm PO et al. | 2007 | BMC genetics |
| 17898028 | Assessment of cumulative evidence on genetic associations: interim guidelines. | Ioannidis JP et al. | 2008 | International journal of epidemiology |
| 18098291 | Folate metabolism genes, vegetable intake and renal cancer risk in central Europe. | Moore LE et al. | 2008 | International journal of cancer |
| 18182569 | Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group. | Davies SM et al. | 2008 | Blood |
| 18191955 | Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. | Zhu Y et al. | 2008 | Mutation research |
| 18199722 | Dietary vitamin B6 intake and the risk of colorectal cancer. | Theodoratou E et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 18203168 | Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. | Boyles AL et al. | 2008 | American journal of medical genetics. Part A |
| 18339682 | Maternal and offspring genetic variants of AKR1C3 and the risk of childhood leukemia. | Liu CY et al. | 2008 | Carcinogenesis |
| 18521744 | BRCA1 promoter methylation is associated with increased mortality among women with breast cancer. | Xu X et al. | 2009 | Breast cancer research and treatment |
| 18538037 | A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry. | Hong SP et al. | 2008 | BMC genomics |
| 18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
| 18583979 | Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. | Allen NC et al. | 2008 | Nature genetics |
| 18603647 | Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. | Simoni M et al. | 2008 | Human reproduction update |
| 18661527 | Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. | Mills JL et al. | 2008 | Birth defects research. Part A, Clinical and molecular teratology |
| 18669903 | Green tea intake, MTHFR/TYMS genotype and breast cancer risk: the Singapore Chinese Health Study. | Inoue M et al. | 2008 | Carcinogenesis |
| 18708404 | B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer. | Xu X et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 18708408 | Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation. | Figueiredo JC et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 18715757 | Genetic associations with schizophrenia: meta-analyses of 12 candidate genes. | Shi J et al. | 2008 | Schizophrenia research |
| 18813964 | Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta. | Kauwe JS et al. | 2009 | Neurogenetics |
| 18830263 | Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma. | Wang SS et al. | 2009 | Leukemia |
| 18842806 | Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations. | DeVos L et al. | 2008 | The American journal of clinical nutrition |
| 18922824 | Genetic susceptibility to childhood leukaemia. | Chokkalingam AP et al. | 2008 | Radiation protection dosimetry |
| 18936436 | Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | Chang MH et al. | 2009 | American journal of epidemiology |
| 18992148 | Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study. | Küry S et al. | 2008 | BMC cancer |
| 19016697 | Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms. | Warren RB et al. | 2009 | The British journal of dermatology |
| 19048631 | Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. | Boyles AL et al. | 2009 | Genetic epidemiology |
| 19062539 | [Genetic diversity and the structure of linkage disequilibrium in the methylenetetrahydrofolate reductase locus]. | Trifonova EA et al. | 2008 | Genetika |
| 19064578 | No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk. | Stevens VL et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 19112534 | Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma. | Fan BJ et al. | 2008 | Molecular vision |
| 19190136 | Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population. | Xu WH et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19193698 | Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate. | Lee YC et al. | 2009 | Rheumatology (Oxford, England) |
| 19272686 | Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study. | Jamison RL et al. | 2009 | American journal of kidney diseases |
| 19336559 | Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors. | Figueiredo JC et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19336565 | Folate intake, methylenetetrahydrofolate reductase polymorphisms, and breast cancer risk in women from the Malmö Diet and Cancer cohort. | Ericson U et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19376481 | One-carbon metabolism and breast cancer: an epidemiological perspective. | Xu X et al. | 2009 | Journal of genetics and genomics = Yi chuan xue bao |
| 19421414 | Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy. | Hudson G et al. | 2009 | Molecular vision |
| 19427845 | Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene. | Norambuena PA et al. | 2009 | Clinical biochemistry |
| 19465420 | MTHFR polymorphisms and 5-FU-based adjuvant chemotherapy in colorectal cancer. | Afzal S et al. | 2009 | Annals of oncology |
| 19493349 | 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. | Shaw GM et al. | 2009 | BMC medical genetics |
| 19538716 | Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores). | Branco CC et al. | 2009 | Thrombosis journal |
| 19591822 | Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services. | Dissanayake VH et al. | 2009 | Experimental and molecular pathology |
| 19593234 | Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women. | Liu P et al. | 2010 | Menopause (New York, N.Y.) |
| 19657388 | Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. | Ravel C et al. | 2009 | PloS one |
| 19683694 | Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. | Martinez CA et al. | 2009 | American journal of obstetrics and gynecology |
| 19700502 | Synopsis and synthesis of candidate-gene association studies in chronic lymphocytic leukemia: the CUMAGAS-CLL information system. | Zintzaras E et al. | 2009 | American journal of epidemiology |
| 19706843 | Alcohol consumption and genetic variation in methylenetetrahydrofolate reductase and 5-methyltetrahydrofolate-homocysteine methyltransferase in relation to breast cancer risk. | Platek ME et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19706844 | Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis. | Collin SM et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19746410 | Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia. | Vares M et al. | 2010 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 19759169 | Increased breast cancer risk at high plasma folate concentrations among women with the MTHFR 677T allele. | Ericson UC et al. | 2009 | The American journal of clinical nutrition |
| 19760026 | The effects of polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) on the risk of cervical intraepithelial neoplasia and cervical cancer in Korean women. | Tong SY et al. | 2010 | Cancer causes & control |
| 19776626 | Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk. | Steck SE et al. | 2008 | Journal of nutrigenetics and nutrigenomics |
| 19826048 | Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. | Akbari MR et al. | 2009 | Cancer research |
| 19936946 | Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. | Hazra A et al. | 2010 | Cancer causes & control |
| 20056627 | Genetic variability in the MTHFR gene and colorectal cancer risk using the colorectal cancer family registry. | Levine AJ et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20065319 | Interaction of methylenetetrahydrofolate reductase genotype and smoking habit in Taiwanese lung cancer patients. | Liu CS et al. | 2009 | Cancer genomics & proteomics |
| 20078613 | Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients. | Etienne-Grimaldi MC et al. | 2010 | British journal of clinical pharmacology |
| 20078877 | Gene polymorphisms in association with emerging cardiovascular risk markers in adult women. | Fan AZ et al. | 2010 | BMC medical genetics |
| 20101025 | Genetic variation in the folate metabolic pathway and risk of childhood leukemia. | Lightfoot TJ et al. | 2010 | Blood |
| 20111745 | Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects. | Lupo PJ et al. | 2010 | Journal of biomedicine & biotechnology |
| 20177420 | Prediction of irinotecan and 5-fluorouracil toxicity and response in patients with advanced colorectal cancer. | Glimelius B et al. | 2011 | The pharmacogenomics journal |
| 20385995 | Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05. | Boige V et al. | 2010 | Journal of clinical oncology |
| 20417488 | Association of fetal inflammation and coagulation pathway gene polymorphisms with neurodevelopmental delay at age 2 years. | Clark EA et al. | 2010 | American journal of obstetrics and gynecology |
| 20472929 | Folate pathway enzyme gene polymorphisms and the efficacy and toxicity of methotrexate in psoriatic arthritis. | Chandran V et al. | 2010 | The Journal of rheumatology |
| 20523222 | MTHFR genotype and differential evolution of metabolic parameters after initiation of a second generation antipsychotic: an observational study. | van Winkel R et al. | 2010 | International clinical psychopharmacology |
| 20544798 | Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women. | Summers CM et al. | 2010 | Birth defects research. Part A, Clinical and molecular teratology |
| 20556870 | CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies. | Johnson AD et al. | 2010 | Genetics in medicine |
| 20600216 | Individual differences in arsenic metabolism and lung cancer in a case-control study in Cordoba, Argentina. | Steinmaus C et al. | 2010 | Toxicology and applied pharmacology |
| 20670920 | Association of genetic variation in cystathionine-beta-synthase and arsenic metabolism. | Porter KE et al. | 2010 | Environmental research |
| 20692813 | Gene-wide association study between the methylenetetrahydrofolate reductase gene (MTHFR) and schizophrenia in the Japanese population, with an updated meta-analysis on currently available data. | Yoshimi A et al. | 2010 | Schizophrenia research |
| 20718043 | Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. | Locke AE et al. | 2010 | Genetic epidemiology |
| 20813848 | Plasma vitamins B2, B6, and B12, and related genetic variants as predictors of colorectal cancer risk. | Eussen SJ et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20817226 | MTHFR polymorphisms in relation to ovarian cancer risk. | Terry KL et al. | 2010 | Gynecologic oncology |
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| 26843965 | Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis. | Saad MN et al. | 2016 | Journal of advanced research |
| 26862484 | Polymorphisms of glutathione S-transferase and methylenetetrahydrofolate reductase genes in Moldavian patients with ulcerative colitis: Genotype-phenotype correlation. | Varzari A et al. | 2016 | Meta gene |
| 26870349 | Impact of single-nucleotide polymorphisms on radiation pneumonitis in cancer patients. | Guo CX et al. | 2016 | Molecular and clinical oncology |
| 26884752 | Single Nucleotide Polymorphisms as Prognostic and Predictive Factors of Adjuvant Chemotherapy in Colorectal Cancer of Stages I and II. | Horvat M et al. | 2016 | Gastroenterology research and practice |
| 26889207 | Profiling placental and fetal DNA methylation in human neural tube defects. | Price EM et al. | 2016 | Epigenetics & chromatin |
| 26914443 | Association study of the common polymorphisms in the folate-methionine pathway with retinoblastoma. | Soleimani E et al. | 2016 | Ophthalmic genetics |
| 27018927 | Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort. | Aydin H et al. | 2016 | Ophthalmic genetics |
| 27104192 | Influence of genetic polymorphisms in the folate pathway on toxicity after high-dose methotrexate treatment in pediatric osteosarcoma. | Park JA et al. | 2016 | Blood research |
| 27217270 | Pharmacogenetic Associations of Antipsychotic Drug-Related Weight Gain: A Systematic Review and Meta-analysis. | Zhang JP et al. | 2016 | Schizophrenia bulletin |
| 27233804 | Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. | Jin T et al. | 2016 | BMC genetics |
| 27274398 | Preliminary study for predicting better methotrexate efficacy in Japanese patients with rheumatoid arthritis. | Hashiguchi M et al. | 2016 | Journal of pharmaceutical health care and sciences |
| 27348238 | Association Between Gene Polymorphisms on Chromosome 1 and Susceptibility to Pre-Eclampsia: An Updated Meta-Analysis. | Zhang G et al. | 2016 | Medical science monitor |
| 27404801 | Joint effects of folate intake and one-carbon-metabolizing genetic polymorphisms on breast cancer risk: a case-control study in China. | Luo WP et al. | 2016 | Scientific reports |
| 27446285 | Risk factors for symptomatic osteonecrosis in childhood ALL: A retrospective study of a Slovenian pediatric ALL population between 1970 and 2004. | Karas-Kuželički N et al. | 2016 | Experimental and therapeutic medicine |
| 27452984 | PACSIN2 polymorphism is associated with thiopurine-induced hematological toxicity in children with acute lymphoblastic leukaemia undergoing maintenance therapy. | Smid A et al. | 2016 | Scientific reports |
| 27473058 | Associations between polymorphisms in folate-metabolizing genes and pancreatic cancer risk in Japanese subjects. | Nakao H et al. | 2016 | BMC gastroenterology |
| 27489588 | Association between Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms and Susceptibility to Childhood Acute Lymphoblastic Leukemia in an Iranian Population. | Bahari G et al. | 2016 | International journal of hematology-oncology and stem cell research |
| 27583843 | Analysis of genetic polymorphisms associated with leukoaraiosis in the southern Chinese population: A case-control study. | Huang WQ et al. | 2016 | Medicine |
| 27608007 | Pharmacogenetics Biomarkers and Their Specific Role in Neoadjuvant Chemoradiotherapy Treatments: An Exploratory Study on Rectal Cancer Patients. | Dreussi E et al. | 2016 | International journal of molecular sciences |
| 27653456 | Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease. | Yuan L et al. | 2016 | Scientific reports |
| 27676277 | Moving toward personalized medicine in rheumatoid arthritis: SNPs in methotrexate intracellular pathways are associated with methotrexate therapeutic outcome. | Lima A et al. | 2016 | Pharmacogenomics |
| 27726107 | Nicotinamide-N-Methyltransferase gene rs694539 variant and migraine risk. | Sazci A et al. | 2016 | The journal of headache and pain |
| 27751863 | Impact of genetic variants of ATP binding cassette B1, AICAR transformylase/IMP cyclohydrolase, folyl-polyglutamatesynthetase, and methylenetetrahydrofolatereductase on methotrexate toxicity. | Sala-Icardo L et al. | 2017 | Reumatologia clinica |
| 27755385 | The antihypertensive MTHFR gene polymorphism rs17367504-G is a possible novel protective locus for preeclampsia. | Thomsen LC et al. | 2017 | Journal of hypertension |
| 27783031 | Association of MTHFR, SLC19A1 Genetic Polymorphism, Serum Folate, Vitamin B<sub>12</sub> and Hcy Status with Cognitive Functions in Chinese Adults. | Cai C et al. | 2016 | Nutrients |
| 27803768 | Polymorphisms of folate metabolism genes in patients with cirrhosis and hepatocellular carcinoma. | Peres NP et al. | 2016 | World journal of hepatology |
| 27808252 | Functional variants of the 5-methyltetrahydrofolate-homocysteine methyltransferase gene significantly increase susceptibility to prostate cancer: Results from an ethnic Han Chinese population. | Qu YY et al. | 2016 | Scientific reports |
| 27819322 | MTHFR c.677C>T Inhibits Cell Proliferation and Decreases Prostate Cancer Susceptibility in the Han Chinese Population in Shanghai. | Wu JL et al. | 2016 | Scientific reports |
| 27827401 | Alcohol consumption, genetic variants in the alcohol- and folate metabolic pathways and colorectal cancer risk: the JPHC Study. | Svensson T et al. | 2016 | Scientific reports |
| 27840191 | Presence of the methylenetetrahydrofolate reductase gene polymorphism MTHFR C677T in molar tissue but not maternal blood predicts failure of methotrexate treatment for low-risk gestational trophoblastic neoplasia. | Qu J et al. | 2017 | European journal of pharmacology |
| 27996344 | Association of methylenetetrahydrofolate reductase gene-gene interaction and haplotype with susceptibility to acute lymphoblastic leukemia in Chinese children. | Xia X et al. | 2017 | Leukemia & lymphoma |
| 28044213 | Polymorphisms of MTHFR C677T and A1298C associated with survival in patients with colorectal cancer treated with 5-fluorouracil-based chemotherapy. | Yeh CC et al. | 2017 | International journal of clinical oncology |
| 28046029 | Genetic Variants in MTHFR Gene Predict ≥ 2 Radiation Pneumonitis in Esophageal Squamous Cell Carcinoma Patients Treated with Thoracic Radiotherapy. | Zhang Y et al. | 2017 | PloS one |
| 28086795 | Atherosclerotic and thrombotic genetic and environmental determinants in Egyptian coronary artery disease patients: a pilot study. | Fawzy MS et al. | 2017 | BMC cardiovascular disorders |
| 28250422 | Components of the folate metabolic pathway and ADHD core traits: an exploration in eastern Indian probands. | Saha T et al. | 2017 | Journal of human genetics |
| 28253266 | Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis. | Wu X et al. | 2017 | PloS one |
| 28266606 | Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis. | Qiu Q et al. | 2017 | Scientific reports |
| 28281392 | Lack of association between MTHFR A1298C variant and Alzheimer's disease: evidence from a systematic review and cumulative meta-analysis. | Liu S et al. | 2017 | Neurological research |
| 28299500 | MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population. | Gopalakrishnan P et al. | 2018 | International ophthalmology |
| 28398708 | Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India. | Dutta HK et al. | 2017 | Birth defects research |
| 28405167 | Genetic variants and increased risk of meningioma: an updated meta-analysis. | Han XY et al. | 2017 | OncoTargets and therapy |
| 28500484 | Association of folate metabolism gene polymorphisms and haplotype combination with pulmonary embolism risk in Chinese Han population. | Li X et al. | 2017 | Mammalian genome |
| 28514598 | The communal relation of MTHFR, MTR, ACE gene polymorphisms and hyperhomocysteinemia as conceivable risk of coronary artery disease. | Masud R et al. | 2017 | Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme |
| 28572465 | Relationship Between Polymorphisms in Methotrexate Pathway Genes and Outcome of Methotrexate Treatment in a Cohort of 119 Patients with Juvenile Idiopathic Arthritis. | Zajc Avramovič M et al. | 2017 | The Journal of rheumatology |
| 28587068 | Genetic Variants Involved in One-Carbon Metabolism: Polymorphism Frequencies and Differences in Homocysteine Concentrations in the Folic Acid Fortification Era. | Steluti J et al. | 2017 | Nutrients |
| 28758112 | Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect. | Guo QN et al. | 2017 | BioMed research international |
| 28822116 | Interactions Between Variation in Candidate Genes and Environmental Factors in the Etiology of Schizophrenia and Bipolar Disorder: a Systematic Review. | Misiak B et al. | 2018 | Molecular neurobiology |
| 28827732 | Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. | Wang J et al. | 2017 | Scientific reports |
| 28915669 | Folate metabolism genetic polymorphisms and meningioma and glioma susceptibility in adults. | Chen D et al. | 2017 | Oncotarget |
| 28927418 | A systematic review and integrative approach to decode the common molecular link between levodopa response and Parkinson's disease. | Guin D et al. | 2017 | BMC medical genomics |
| 28943344 | Polymorphisms of the folate metabolizing enzymes: Association with SLE susceptibility and in silico analysis. | Salimi S et al. | 2017 | Gene |
| 29193749 | Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. | Borobia AM et al. | 2018 | Clinical and translational science |
| 29343135 | Genetic polymorphisms in folate metabolism as risk for Down syndrome in the southern China. | Jiajin L et al. | 2019 | The journal of maternal-fetal & neonatal medicine |
| 29369772 | Polymorphisms in folate metabolism genes are associated with susceptibility to presbycusis. | Manche SK et al. | 2018 | Life sciences |
| 29370017 | MTHFR Gene Polymorphism Is Associated With DNA Hypomethylation and Genetic Damage Among Benzene-Exposed Workers in Southeast China. | Ren JC et al. | 2018 | Journal of occupational and environmental medicine |
| 29396624 | Is the 1298A>C polymorphism in the MTHFR gene a risk factor for arterial ischaemic stroke in children? The results of meta-analysis. | Sarecka-Hujar B et al. | 2018 | Clinical and experimental medicine |
| 29407547 | Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems. | Saha T et al. | 2018 | Progress in neuro-psychopharmacology & biological psychiatry |
| 29544444 | Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study. | Hardi H et al. | 2018 | BMC cancer |
| 29555401 | Methylenetetrahydrofolate Reductase Gene Polymorphisms (C677T and A1298C) and Hemorrhagic Stroke in Moroccan Patients. | Abidi O et al. | 2018 | Journal of stroke and cerebrovascular diseases |
| 29599316 | The Role of <i>MTHFR</i> Genotype in Colorectal Cancer Susceptibility in Taiwan. | Lin KM et al. | 2018 | Anticancer research |
| 29600437 | CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children. | Ibrahim S et al. | 2018 | Molecular biology reports |
| 29644956 | Genetic polymorphisms of key enzymes in folate metabolism affect the efficacy of folate therapy in patients with hyperhomocysteinaemia. | Du B et al. | 2018 | The British journal of nutrition |
| 29662106 | Pharmacogenetics of platinum-based chemotherapy: impact of DNA repair and folate metabolism gene polymorphisms on prognosis of non-small cell lung cancer patients. | Pérez-Ramírez C et al. | 2019 | The pharmacogenomics journal |
| 29804062 | Relevance of <i>MTHFR</i> polymorphisms with response to fluoropyrimidine-based chemotherapy in oesophagogastric cancer: a meta-analysis. | Zhong L et al. | 2018 | BMJ open |
| 29972410 | Genetic Risk Analysis of Coronary Artery Disease in a Population-based Study in Portugal, Using a Genetic Risk Score of 31 Variants. | Pereira A et al. | 2018 | Arquivos brasileiros de cardiologia |
| 30001659 | The association of parental methylenetetrahydrofolate reductase polymorphisms (<i>MTHFR</i> 677C > T and 1298A > C) and fetal loss: a case-control study in South Australia. | Kos BJP et al. | 2020 | The journal of maternal-fetal & neonatal medicine |
| 30084051 | Interaction of MTHFR gene with smoking and alcohol use and haplotype combination susceptibility to psoriasis in Chinese population. | Luo Q et al. | 2018 | Immunologic research |
| 30120883 | Association of FOLH1, DHFR, and MTHFR gene polymorphisms with susceptibility of Neural Tube Defects: A case control study from Eastern India. | Paul S et al. | 2018 | Birth defects research |
| 30131971 | <i>NLRP3</i> expression in mesencephalic neurons and characterization of a rare <i>NLRP3</i> polymorphism associated with decreased risk of Parkinson's disease. | von Herrmann KM et al. | 2018 | NPJ Parkinson's disease |
| 30139066 | Meta-Analysis of Polymorphic Variants Conferring Genetic Risk to Cervical Cancer in Indian Women Supports CYP1A1 as an Important Associated Locus | Sengupta D et al. | 2018 | Asian Pacific journal of cancer prevention |
| 30182779 | Genetic susceptibility to cerebrovascular disease: A systematic review. | Griessenauer CJ et al. | 2018 | Journal of cerebral blood flow and metabolism |
| 30203425 | Study of gene polymorphisms as predictors of treatment efficacy and toxicity in patients with indolent non-hodgkin lymphomas and mantle cell lymphoma receiving bendamustine and rituximab. | Cencini E et al. | 2019 | British journal of haematology |
| 30235667 | Genetic polymorphisms of pharmacogenomic VIP variants in the Lisu population of southwestern China: A cohort study. | Li B et al. | 2018 | Medicine |
| 30333252 | The roles of <i>MTRR</i> and <i>MTHFR</i> gene polymorphisms in congenital heart diseases: a meta-analysis. | Xu A et al. | 2018 | Bioscience reports |
| 30337837 | Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis. | Wen J et al. | 2018 | Cancer cell international |
| 30339177 | The 677C→T variant of MTHFR is the major genetic modifier of biomarkers of folate status in a young, healthy Irish population. | Shane B et al. | 2018 | The American journal of clinical nutrition |
| 30356105 | Frequencies of poor metabolizer alleles of 12 pharmacogenomic actionable genes in Punjabi Sikhs of Indian Origin. | Sanghera DK et al. | 2018 | Scientific reports |
| 30409984 | Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. | John SE et al. | 2018 | Scientific reports |
| 30465841 | Investigation of potential biomarkers for thrombosis related diseases in Turkish Cypriot population. | Ergoren MC et al. | 2019 | International journal of biological macromolecules |
| 30466296 | Correlations between methylenetetrahydrofolate reductase gene polymorphisms and venous thromboembolism: A meta-analysis of 99 genetic association studies. | Zeng J et al. | 2019 | European journal of preventive cardiology |
| 30546311 | Genetic Polymorphisms of TYMS, MTHFR, ATIC, MTR, and MTRR Are Related to the Outcome of Methotrexate Therapy for Rheumatoid Arthritis in a Chinese Population. | Lv S et al. | 2018 | Frontiers in pharmacology |
| 30571812 | Additional value of a combined genetic risk score to standard cardiovascular stratification. | Pereira A et al. | 2018 | Genetics and molecular biology |
| 30581350 | Association between MTHFR 677C>T Polymorphism and Vitamin B12 Deficiency: A Case-control Study. | Al-Batayneh KM et al. | 2018 | Journal of medical biochemistry |
| 30587867 | Polymorphisms in folic acid metabolism genes do not associate with cancer cachexia in Japanese gastrointestinal patients. | Morishita T et al. | 2018 | Nagoya journal of medical science |
| 30591868 | MTHFR variant is associated with high-dose methotrexate-induced toxicity in the Chinese osteosarcoma patients. | Xu L et al. | 2018 | Journal of bone oncology |
| 30607769 | Pharmacogenetic Correlates of Antipsychotic-Induced Weight Gain in the Chinese Population. | Luo C et al. | 2019 | Neuroscience bulletin |
| 30612060 | Arsenic metabolites; selenium; and AS3MT, MTHFR, AQP4, AQP9, SELENOP, INMT, and MT2A polymorphisms in Croatian-Slovenian population from PHIME-CROME study. | Stajnko A et al. | 2019 | Environmental research |
| 30709423 | TRIM4 is associated with neural tube defects based on genome-wide DNA methylation analysis. | Zhang H et al. | 2019 | Clinical epigenetics |
| 30793520 | Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies. | Tian J et al. | 2019 | Cancer medicine |
| 30843750 | Genetic variants linked to folliculogenesis and successful pregnancy are not associated with twin births in a twins' town. | Cardoso-Dos-Santos AC et al. | 2020 | The journal of maternal-fetal & neonatal medicine |
| 30851082 | Correlation between MTHFR polymorphisms and glaucoma: A meta-analysis. | Zhang L et al. | 2019 | Molecular genetics & genomic medicine |
| 30877365 | CDA and MTHFR polymorphisms are associated with clinical outcomes in gastroenteric cancer patients treated with capecitabine-based chemotherapy. | Liu D et al. | 2019 | Cancer chemotherapy and pharmacology |
| 30900398 | Polymorphism of MTHFR 1298A>C in relation to adverse pregnancy outcomes in Chinese populations. | Mo H et al. | 2019 | Molecular genetics & genomic medicine |
| 30917367 | Correlation between Methylenetetrahydrofolate Reductase Polymorphisms and Hepatocellular Carcinoma: A Meta-Analysis. | Su H et al. | 2019 | Annals of nutrition & metabolism |
| 31005971 | The MTHFR 677C>T polymorphism is associated with unmetabolized folic acid in breast milk in a cohort of Canadian women. | Page R et al. | 2019 | The American journal of clinical nutrition |
| 31115963 | The implication of single-nucleotide polymorphisms in ovarian hyperstimulation syndrome. | Ghaderian SMH et al. | 2019 | Molecular reproduction and development |
| 31145465 | Association between polymorphisms of a folate - homocysteine - methionine - SAM metabolising enzyme gene and multiple sclerosis in a Polish population. | Chorąży M et al. | 2019 | Neurologia i neurochirurgia polska |
| 31146742 | Genetic impact of methylenetetrahydrofolate reductase (MTHFR) polymorphism on the susceptibility to colorectal polyps: a meta-analysis. | Sun M et al. | 2019 | BMC medical genetics |
| 31184621 | [A comparative analysis of allele frequencies of rs1801133 and rs1801131 of MTHFR in patients with stroke and healthy people from the Moscow region]. | Dribnokhodova OP et al. | 2019 | Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova |
| 31208817 | One-carbon metabolism gene polymorphisms are associated with cognitive trajectory among African-American adults. | Beydoun MA et al. | 2019 | Neurobiology of aging |
| 31242814 | Association of Methylenetetrahydrofolate Reductase, Vitamin D Receptor, and Interleukin-16 Gene Polymorphisms With Renal Cell Carcinoma Risk. | Zhou T et al. | 2019 | Technology in cancer research & treatment |
| 31282757 | Correlation Between <i>MTHFR</i> Polymorphisms and Hepatocellular Carcinoma: A Meta-analysis. | Su H et al. | 2019 | Nutrition and cancer |
| 31330573 | Methylenetetrahydrofolate reductase polymorphisms and colorectal cancer prognosis: A meta-analysis. | Chen XL et al. | 2019 | The journal of gene medicine |
| 31350902 | Formate concentrations in maternal plasma during pregnancy and in cord blood in a cohort of pregnant Canadian women: relations to genetic polymorphisms and plasma metabolites. | Brosnan JT et al. | 2019 | The American journal of clinical nutrition |
| 31370354 | Association of Polymorphisms in Genes Involved in One-Carbon Metabolism with <i>MTHFR</i> Methylation Levels. | Coppedè F et al. | 2019 | International journal of molecular sciences |
| 31395900 | Sex-Related Differences in Impact on Safety of Pharmacogenetic Profile for Colon Cancer Patients Treated with FOLFOX-4 or XELOX Adjuvant Chemotherapy. | Ruzzo A et al. | 2019 | Scientific reports |
| 31418317 | Association study of high-frequency variants of <i>MTHFR</i> gene with retinal vein occlusion in a Spanish population. | Fernández-Vega B et al. | 2019 | Ophthalmic genetics |
| 31443485 | Maternal Haplotypes in <i>DHFR</i> Promoter and <i>MTHFR</i> Gene in Tuning Childhood Acute Lymphoblastic Leukemia Onset-Latency: Genetic/Epigenetic Mother/Child Dyad Study (GEMCDS). | Tisato V et al. | 2019 | Genes |
| 31444033 | Genetic contributors and soluble mediators in prediction of autoimmune comorbidity. | Nezos A et al. | 2019 | Journal of autoimmunity |
| 31456518 | Identification of Phosphorylation Associated SNPs for Blood Pressure, Coronary Artery Disease and Stroke from Genome-wide Association Studies. | Wang X et al. | 2019 | Current molecular medicine |
| 31470081 | A meta-analysis on associations of FTO, MTHFR and TCF7L2 polymorphisms with polycystic ovary syndrome. | Wang X et al. | 2020 | Genomics |
| 31539757 | The role of single-nucleotide polymorphism (SNPs) in toxicity of induction chemotherapy based on cisplatin and paclitaxel in patients with advanced head and neck cancer. | De Marchi P et al. | 2019 | Oral oncology |
| 31646966 | MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study. | Khidri FF et al. | 2019 | BMC medical genetics |
| 31815282 | Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure. | Liu S et al. | 2019 | Bioscience reports |
| 31817852 | Plasma Homocysteine and Polymorphisms of Genes Involved in Folate Metabolism Correlate with <i>DNMT1</i> Gene Methylation Levels. | Coppedè F et al. | 2019 | Metabolites |
| 31818908 | Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer. | Montazeri Z et al. | 2020 | Gut |
| 31832443 | Association of Two Methylenetetrahydrofolate Reductase Polymorphisms (rs1801133, rs1801131) with the Risk of Type 2 Diabetes in South-East of Iran. | Poodineh M et al. | 2019 | Reports of biochemistry & molecular biology |
| 31920317 | Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community. | Arab AH et al. | 2019 | Neuropsychiatric disease and treatment |
| 32003411 | Genetic Variants of Homocysteine Metabolism, Homocysteine, and Frailty - Rugao Longevity and Ageing Study. | Ma T et al. | 2020 | The journal of nutrition, health & aging |
| 32024416 | <i>MTHFR</i>, <i>TYMS</i> and <i>SLCO1B1</i> polymorphisms and adverse liver effects of methotrexate in rheumatoid arthritis. | Sundbaum JK et al. | 2020 | Pharmacogenomics |
| 32098547 | Association between <i>methylene tetrahydrofolate reductase</i> polymorphisms and risk of ischemic stroke. | Mazdeh M et al. | 2021 | The International journal of neuroscience |
| 32117640 | Single nucleotide polymorphism of <i>MTHFR</i> rs1801133 associated with elevated Hcy levels affects susceptibility to cerebral small vessel disease. | Yuan H et al. | 2020 | PeerJ |
| 32136693 | ||||
| 32162036 | Genetic polymorphisms and multiple myeloma risk: a meta-analysis. | Zhang P et al. | 2020 | Annals of hematology |
| 32192442 | MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia. | Floris M et al. | 2020 | BMC cancer |
| 32257953 | Genetic Polymorphisms and Platinum-Based Chemotherapy-Induced Toxicities in Patients With Lung Cancer: A Systematic Review and Meta-Analysis. | Liu W et al. | 2019 | Frontiers in oncology |
| 32340630 | Association between methylenetetrahydrofolate reductase gene rs1801131 A/C polymorphism and urinary tumors' susceptibility. | Xu S et al. | 2020 | Hereditas |
| 32351067 | [The effect of polymorphisms C677T and 1298 gene MTHFR on the reproductive function of men]. | Kulchenko NG et al. | 2020 | Urologiia (Moscow, Russia |
| 32355262 | Replication analysis of variants associated with multiple sclerosis risk. | Dashti M et al. | 2020 | Scientific reports |
| 32410296 | A molecular-beacon-based asymmetric PCR assay for detecting polymorphisms related to folate metabolism. | Peng Q et al. | 2020 | Journal of clinical laboratory analysis |
| 32460399 | Genetic variants in the MTHFR are not associated with fatty liver disease. | De Vincentis A et al. | 2020 | Liver international |
| 32536231 | Association between Fetal MTHFR A1298C (rs1801131) Polymorphism and Neural Tube Defects Risk: A Systematic Review and Meta-Analysis. | Soleimani-Jadidi S et al. | 2022 | Fetal and pediatric pathology |
| 32639550 | Methylenetetrahydrofolate reductase gene polymorphisms in the risk of polycystic ovary syndrome and ovarian cancer. | Xiong Y et al. | 2020 | Bioscience reports |
| 32695297 | Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia. | Esmaili MA et al. | 2020 | Iranian journal of basic medical sciences |
| 32727753 | Association of C677T and A1298C <i>MTHFR</i> Polymorphisms and Fluoropyrimidine-induced Toxicity in Mestizo Patients With Metastatic Colorectal Cancer. | Ramos-Esquivel A et al. | 2020 | Anticancer research |
| 32728337 | Computational Prediction of Probable Single Nucleotide Polymorphism-Cancer Relationships. | Bakhtiari S et al. | 2020 | Cancer informatics |
| 32775330 | Association Study of <i>MTHFR</i> Polymorphisms with Nonarteritic Anterior Ischemic Optic Neuropathy in a Spanish Population. | Fernández-Vega B et al. | 2020 | Biomedicine hub |
| 32795354 | Influence of genetic polymorphisms in homocysteine and lipid metabolism systems on antidepressant drug response. | Yuan B et al. | 2020 | BMC psychiatry |
| 32804129 | Allelic Distribution of Genes for Apolipoprotein E and MTHFR in Patients with Alzheimer's Disease and Their Epistatic Interaction. | Sutovsky S et al. | 2020 | Journal of Alzheimer's disease |
| 33013017 | Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis. | Paradkar MU et al. | 2020 | Indian journal of clinical biochemistry |
| 33025822 | Association Between Nonsyndromic Cleft Lip and Palate and 2 Polymorphic Loci: A Meta-Analysis. | Wang Y et al. | 2021 | The Cleft palate-craniofacial journal |
| 33035787 | Effect of DPYD, MTHFR, ABCB1, XRCC1, ERCC1 and GSTP1 on chemotherapy related toxicity in colorectal carcinoma. | Puerta-García E et al. | 2020 | Surgical oncology |
| 33123371 | 5,10-Methylenetetrahydrofolate reductase (<i>MTHFR</i>) C677T/A1298C polymorphisms in patients with nonsyndromic cleft lip and palate. | Komiyama Y et al. | 2020 | Biomedical reports |
| 33128086 | Genetic association study of fatal pulmonary embolism. | Meißner L et al. | 2021 | International journal of legal medicine |
| 33147056 | Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants. | Cáceres-Rojas G et al. | 2020 | Epigenomics |
| 33153024 | Impact of Gene-Environment Interactions on Cancer Development. | Mbemi A et al. | 2020 | International journal of environmental research and public health |
| 33195260 | Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors. | Martinelli M et al. | 2020 | Frontiers in cell and developmental biology |
| 33219596 | Associations of methylenetetrahydrofolate reductase gene (MTHFR) rs1801131 and rs1801133 polymorphisms with susceptibility to vitiligo: A meta-analysis. | Zhang HZ et al. | 2021 | Journal of cosmetic dermatology |
| 33247557 | Associations between MTHFR gene polymorphisms and the risk of intracranial hemorrhage: Evidence from a meta-analysis. | Wang F et al. | 2021 | Brain and behavior |
| 33262486 | Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters. | 2020 | European journal of human genetics | |
| 33374413 | Tracking the Genetic Susceptibility Background of B-Cell Non-Hodgkin's Lymphomas from Genome-Wide Association Studies. | Hernández-Verdin I et al. | 2020 | International journal of molecular sciences |
| 33387129 | Association of C677T (rs1081133) and A1298C (rs1801131) Methylenetetrahydrofolate Reductase Variants with Breast Cancer Susceptibility Among Asians: A Systematic Review and Meta-Analysis. | Rezaee M et al. | 2021 | Biochemical genetics |
| 33639682 | Strong Correlation of MTHFR Gene Polymorphisms with Breast Cancer and its Prognostic Clinical Factors among Egyptian Females. | Omran MH et al. | 2021 | Asian Pacific journal of cancer prevention |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.