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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)
G=0.258297 (36161/139998, GnomAD)
G=0.295002 (35805/121372, ExAC)
G=0.19506 (15349/78690, PAGE_STUDY)
G=0.19696 (3301/16760, 8.3KJPN)
G=0.25957 (3376/13006, GO-ESP)
G=0.2494 (1249/5008, 1000G)
G=0.3067 (1374/4480, Estonian)
G=0.3132 (1207/3854, ALSPAC)
G=0.3250 (1205/3708, TWINSUK)
G=0.1756 (513/2922, KOREAN)
G=0.2452 (464/1892, HapMap)
G=0.2542 (274/1078, PharmGKB)
G=0.322 (321/998, GoNL)
G=0.232 (145/626, Chileans)
G=0.264 (161/611, Vietnamese)
G=0.332 (199/600, NorthernSweden)
G=0.301 (161/534, MGP)
G=0.316 (96/304, FINRISK)
T=0.423 (115/272, SGDP_PRJ)
G=0.347 (75/216, Qatari)
G=0.18 (16/88, Ancient Sardinia)
G=0.45 (18/40, GENOME_DK)
T=0.50 (15/30, Siberian)
G=0.50 (15/30, Siberian)
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.

Release Version: 20201027095038
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


Help

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
Help

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.

Genomic Placements
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
Gene: MTHFR, methylenetetrahydrofolate reductase (minus strand)
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
Help

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.

Allele: G (allele ID: 18560 )
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
Help

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
Help

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#.

146 SubSNP, 26 Frequency, 9 ClinVar submissions
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)
Help

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)
Added to this RefSNP Cluster:
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)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

417 citations for rs1801131
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
20935060 Genetic modifiers of carcinogen DNA adducts in target lung and peripheral blood mononuclear cells. Lee MS et al. 2010 Carcinogenesis
20960050 Dietary methyl donors, methyl metabolizing enzymes, and epigenetic regulators: diet-gene interactions and promoter CpG island hypermethylation in colorectal cancer. de Vogel S et al. 2011 Cancer causes & control
20962791 Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants. Cheng X et al. 2011 Journal of human genetics
21036793 Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field. Ogino S et al. 2011 Gut
21125565
21146954 Genes and abdominal aortic aneurysm. Hinterseher I et al. 2011 Annals of vascular surgery
21178085 High intake of folate from food sources is associated with reduced risk of esophageal cancer in an Australian population. Ibiebele TI et al. 2011 The Journal of nutrition
21204206 Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population. Carter TC et al. 2011 American journal of medical genetics. Part A
21210953
21211571 MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic. Pardini B et al. 2011 Mutation research
21217836 No Association Between Functional Polymorphisms in COMT and MTHFR and Schizophrenia Risk in Korean Population. Kang HJ et al. 2010 Epidemiology and health
21219404 Influence of polymorphisms within the methotrexate pathway genes on the toxicity and efficacy of methotrexate in patients with juvenile idiopathic arthritis. Yanagimachi M et al. 2011 British journal of clinical pharmacology
21234904
21254358 Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection. Chiquet BT et al. 2011 Birth defects research. Part A, Clinical and molecular teratology
21254359 Folate pathway and nonsyndromic cleft lip and palate. Blanton SH et al. 2011 Birth defects research. Part A, Clinical and molecular teratology
21255267 MTHFR polymorphisms and cognitive ageing in the ninth decade: the Lothian Birth Cohort 1921. Schiepers OJ et al. 2011 Genes, brain, and behavior
21274745 Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study. Levine AJ et al. 2011 Cancer causes & control
21281325 Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis. Cleves MA et al. 2011 Paediatric and perinatal epidemiology
21282454 Association of thymidylate synthase gene polymorphisms with stavudine triphosphate intracellular levels and lipodystrophy. Domingo P et al. 2011 Antimicrobial agents and chemotherapy
21302350 Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and age of onset in schizophrenia: a combined analysis of independent samples. Saetre P et al. 2011 American journal of medical genetics. Part B, Neuropsychiatric genetics
21338559 Interactions between genetic variants of folate metabolism genes and lifestyle affect plasma homocysteine concentrations in the Boston Puerto Rican population. Huang T et al. 2011 Public health nutrition
21343546 Phase II trial of pemetrexed and bevacizumab in patients with recurrent or metastatic head and neck cancer. Argiris A et al. 2011 Journal of clinical oncology
21347786 DNA repair gene and MTHFR gene polymorphisms as prognostic markers in locally advanced adenocarcinoma of the esophagus or stomach treated with cisplatin and 5-fluorouracil-based neoadjuvant chemotherapy. Ott K et al. 2011 Annals of surgical oncology
21362212 [Detection of single nucleotide polymorphisms of mthfr and dpyd genes in leukemia cell lines K562 and K562/A02]. Zhang WJ et al. 2011 Zhongguo shi yan xue ye xue za zhi
21363880 Phase I trial of pemetrexed in combination with cetuximab and concurrent radiotherapy in patients with head and neck cancer. Argiris A et al. 2011 Annals of oncology
21441680 Profiling single nucleotide polymorphisms (SNPs) across intracellular folate metabolic pathway in healthy Indians. Ghodke Y et al. 2011 The Indian journal of medical research
21461582 Lack of association between methylenetetrahydrofolate reductase genetic polymorphisms and postmenopausal breast cancer risk. Ziva Cerne J et al. 2011 Molecular medicine reports
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21504842 Dietary, lifestyle and pharmacogenetic factors associated with arteriole endothelial-dependent vasodilatation in schizophrenia patients treated with atypical antipsychotics (AAPs). Ellingrod VL et al. 2011 Schizophrenia research
21514219 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Zhang B et al. 2011 The Lancet. Oncology
21533139 Predicting diabetic nephropathy using a multifactorial genetic model. Blech I et al. 2011 PloS one
21567207 Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease. Masud R et al. 2011 Molecular and cellular biochemistry
21597034 The folate hydrolase 1561C>T polymorphism is associated with depressive symptoms in Puerto Rican adults. Ye X et al. 2011 Psychosomatic medicine
21597397 Genetic and environmental determinants of plasma total homocysteine levels: impact of population-wide folate fortification. Nagele P et al. 2011 Pharmacogenetics and genomics
21610500 Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. Schmidt RJ et al. 2011 Epidemiology (Cambridge, Mass.)
21613384 Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC). Fung MM et al. 2012 Nephrology, dialysis, transplantation
21615938 Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder. Aneiros-Guerrero A et al. 2011 BMC medical genetics
21618410 Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy. Kamdar KY et al. 2011 Pediatric blood & cancer
21658613 Host genetics in follicular lymphoma. Cerhan JR et al. 2011 Best practice & research. Clinical haematology
21738611 B vitamins, methionine and alcohol intake and risk of colon cancer in relation to BRAF mutation and CpG island methylator phenotype (CIMP). Schernhammer ES et al. 2011 PloS one
21748308 Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia. Metayer C et al. 2011 Cancer causes & control
21819229 Methylenetetrahydrofolate reductase gene polymorphisms in Turkish children with attention-deficit/hyperactivity disorder. Ergul E et al. 2012 Genetic testing and molecular biomarkers
21857382 Candidate genes and risk for CP: a population-based study. Wu YW et al. 2011 Pediatric research
21857689 Folate and vitamin B12 in idiopathic male infertility. Murphy LE et al. 2011 Asian journal of andrology
21919968 Validation of genetic variants associated with early acute rejection in kidney allograft transplantation. Oetting WS et al. 2012 Clinical transplantation
21931346 MTHFR gene polymorphisms and outcome of methotrexate treatment in patients with rheumatoid arthritis: analysis of key polymorphisms and meta-analysis of C677T and A1298C polymorphisms. Owen SA et al. 2013 The pharmacogenomics journal
21989330 The Cyclin D1 (CCND1) A870G polymorphism predicts clinical outcome to lapatinib and capecitabine in HER2-positive metastatic breast cancer. Labonte MJ et al. 2012 Annals of oncology
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24380661 MTHFR C677T and A1298C polymorphisms and risk of nonsyndromic orofacial clefts in a south Indian population. Murthy J et al. 2014 International journal of pediatric otorhinolaryngology
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24500500 Gene promoter methylation in colorectal cancer and healthy adjacent mucosa specimens: correlation with physiological and pathological characteristics, and with biomarkers of one-carbon metabolism. Coppedè F et al. 2014 Epigenetics
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25177243 The influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in children with non-Hodgkin malignant lymphoma. Erculj N et al. 2014 Radiology and oncology
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25294155 A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival. Baecklund F et al. 2014 BMC medical genetics
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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&gt;T Inhibits Cell Proliferation and Decreases Prostate Cancer Susceptibility in the Han Chinese Population in Shanghai. Wu JL et al. 2016 Scientific reports
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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
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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
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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 &gt; T and 1298A &gt; 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&gt;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&gt;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&gt;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
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Select flank length:

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.

Software version is: 2.0.1.post676+237644a