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.
rs2236225
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr14:64442127 (GRCh38.p14) 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
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.380642 (100752/264690, TOPMED)A=0.443848 (111611/251462, GnomAD_exome)A=0.438880 (76158/173528, ALFA) (+ 27 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MTHFD1 : Missense Variant
- Publications
- 107 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: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 189944 | G=0.566104 | A=0.433896 |
| European | Sub | 153476 | G=0.551910 | A=0.448090 |
| African | Sub | 13380 | G=0.77818 | A=0.22182 |
| African Others | Sub | 458 | G=0.845 | A=0.155 |
| African American | Sub | 12922 | G=0.77581 | A=0.22419 |
| Asian | Sub | 366 | G=0.790 | A=0.210 |
| East Asian | Sub | 268 | G=0.810 | A=0.190 |
| Other Asian | Sub | 98 | G=0.73 | A=0.27 |
| Latin American 1 | Sub | 702 | G=0.605 | A=0.395 |
| Latin American 2 | Sub | 3338 | G=0.4452 | A=0.5548 |
| South Asian | Sub | 4938 | G=0.4753 | A=0.5247 |
| Other | Sub | 13744 | G=0.57218 | A=0.42782 |
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 | G=0.619358 | A=0.380642 |
| gnomAD - Exomes | Global | Study-wide | 251462 | G=0.556152 | A=0.443848 |
| gnomAD - Exomes | European | Sub | 135390 | G=0.550632 | A=0.449368 |
| gnomAD - Exomes | Asian | Sub | 49008 | G=0.58948 | A=0.41052 |
| gnomAD - Exomes | American | Sub | 34592 | G=0.41758 | A=0.58242 |
| gnomAD - Exomes | African | Sub | 16254 | G=0.79162 | A=0.20838 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10078 | G=0.56271 | A=0.43729 |
| gnomAD - Exomes | Other | Sub | 6140 | G=0.5585 | A=0.4415 |
| Allele Frequency Aggregator | Total | Global | 173528 | G=0.561120 | A=0.438880 |
| Allele Frequency Aggregator | European | Sub | 143342 | G=0.552608 | A=0.447392 |
| Allele Frequency Aggregator | Other | Sub | 12298 | G=0.56904 | A=0.43096 |
| Allele Frequency Aggregator | African | Sub | 8544 | G=0.7740 | A=0.2260 |
| Allele Frequency Aggregator | South Asian | Sub | 4938 | G=0.4753 | A=0.5247 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 3338 | G=0.4452 | A=0.5548 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 702 | G=0.605 | A=0.395 |
| Allele Frequency Aggregator | Asian | Sub | 366 | G=0.790 | A=0.210 |
| gnomAD - Genomes | Global | Study-wide | 139976 | G=0.618249 | A=0.381751 |
| gnomAD - Genomes | European | Sub | 75802 | G=0.54603 | A=0.45397 |
| gnomAD - Genomes | African | Sub | 41942 | G=0.78618 | A=0.21382 |
| gnomAD - Genomes | American | Sub | 13638 | G=0.47976 | A=0.52024 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.5665 | A=0.4335 |
| gnomAD - Genomes | East Asian | Sub | 3126 | G=0.7818 | A=0.2182 |
| gnomAD - Genomes | Other | Sub | 2146 | G=0.6090 | A=0.3910 |
| ExAC | Global | Study-wide | 121370 | G=0.564604 | A=0.435396 |
| ExAC | Europe | Sub | 73344 | G=0.55067 | A=0.44933 |
| ExAC | Asian | Sub | 25140 | G=0.58103 | A=0.41897 |
| ExAC | American | Sub | 11574 | G=0.41498 | A=0.58502 |
| ExAC | African | Sub | 10404 | G=0.78825 | A=0.21175 |
| ExAC | Other | Sub | 908 | G=0.580 | A=0.420 |
| The PAGE Study | Global | Study-wide | 78358 | G=0.66621 | A=0.33379 |
| The PAGE Study | AfricanAmerican | Sub | 32386 | G=0.78346 | A=0.21654 |
| The PAGE Study | Mexican | Sub | 10758 | G=0.44590 | A=0.55410 |
| The PAGE Study | Asian | Sub | 8284 | G=0.7109 | A=0.2891 |
| The PAGE Study | PuertoRican | Sub | 7886 | G=0.5687 | A=0.4313 |
| The PAGE Study | NativeHawaiian | Sub | 4522 | G=0.7979 | A=0.2021 |
| The PAGE Study | Cuban | Sub | 4200 | G=0.5952 | A=0.4048 |
| The PAGE Study | Dominican | Sub | 3814 | G=0.6411 | A=0.3589 |
| The PAGE Study | CentralAmerican | Sub | 2432 | G=0.4498 | A=0.5502 |
| The PAGE Study | SouthAmerican | Sub | 1966 | G=0.4481 | A=0.5519 |
| The PAGE Study | NativeAmerican | Sub | 1254 | G=0.5622 | A=0.4378 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.498 | A=0.502 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.71293 | A=0.28707 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.71313 | A=0.28687 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.6568 | A=0.3432 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.8404 | A=0.1596 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.5742 | A=0.4258 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.4958 | A=0.5042 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.8043 | A=0.1957 |
| 1000Genomes_30x | American | Sub | 980 | G=0.450 | A=0.550 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.6581 | A=0.3419 |
| 1000Genomes | African | Sub | 1322 | G=0.8419 | A=0.1581 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.8016 | A=0.1984 |
| 1000Genomes | Europe | Sub | 1006 | G=0.5706 | A=0.4294 |
| 1000Genomes | South Asian | Sub | 978 | G=0.496 | A=0.504 |
| 1000Genomes | American | Sub | 694 | G=0.455 | A=0.545 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.5188 | A=0.4813 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.5527 | A=0.4473 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.5475 | A=0.4525 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.7410 | A=0.2590 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2082 | G=0.6114 | A=0.3886 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | G=0.811 | A=0.189 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.519 | A=0.481 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.571 | A=0.429 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.547 | A=0.453 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=0.835 | A=0.165 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 214 | G=0.304 | A=0.696 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=0.49 | A=0.51 |
| HapMap | Global | Study-wide | 1884 | G=0.6762 | A=0.3238 |
| HapMap | American | Sub | 764 | G=0.626 | A=0.374 |
| HapMap | African | Sub | 692 | G=0.724 | A=0.276 |
| HapMap | Asian | Sub | 252 | G=0.758 | A=0.242 |
| HapMap | Europe | Sub | 176 | G=0.591 | A=0.409 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.7467 | A=0.2533 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1134 | G=0.5732 | A=0.4268 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 626 | G=0.575 | A=0.425 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | G=0.549 | A=0.451 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | G=0.639 | A=0.361 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | G=0.574 | A=0.426 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | G=0.52 | A=0.48 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | G=0.56 | A=0.44 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.551 | A=0.449 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 778 | G=0.785 | A=0.215 |
| CNV burdens in cranial meningiomas | CRM | Sub | 778 | G=0.785 | A=0.215 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 610 | G=0.861 | A=0.139 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.500 | A=0.500 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.586 | A=0.414 |
| SGDP_PRJ | Global | Study-wide | 340 | G=0.368 | A=0.632 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.539 | A=0.461 |
| Qatari | Global | Study-wide | 216 | G=0.537 | A=0.463 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 94 | G=0.55 | A=0.45 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.62 | A=0.38 |
| Siberian | Global | Study-wide | 26 | G=0.27 | A=0.73 |
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.p14 chr 14 | NC_000014.9:g.64442127G>A |
| GRCh37.p13 chr 14 | NC_000014.8:g.64908845G>A |
| MTHFD1 RefSeqGene (LRG_1243) | NG_012450.2:g.59087G>A |
Gene: MTHFD1, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MTHFD1 transcript variant 1 | NM_005956.4:c.1958G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| C-1-tetrahydrofolate synthase, cytoplasmic isoform 1 | NP_005947.3:p.Arg653Gln | R (Arg) > Q (Gln) | Missense Variant |
| MTHFD1 transcript variant 2 | NM_001364837.1:c.1958G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| C-1-tetrahydrofolate synthase, cytoplasmic isoform 2 | NP_001351766.1:p.Arg653Gln | R (Arg) > Q (Gln) | Missense 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: A (allele ID:
28672
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000014603.5 | Neural tube defects, folate-sensitive, susceptibility to | Risk-Factor |
| RCV000455528.4 | not specified | Benign-Likely-Benign |
| RCV001513968.6 | not provided | Benign |
| RCV001775541.2 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 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 | G= | A |
|---|---|---|
| GRCh38.p14 chr 14 | NC_000014.9:g.64442127= | NC_000014.9:g.64442127G>A |
| GRCh37.p13 chr 14 | NC_000014.8:g.64908845= | NC_000014.8:g.64908845G>A |
| MTHFD1 RefSeqGene (LRG_1243) | NG_012450.2:g.59087= | NG_012450.2:g.59087G>A |
| MTHFD1 transcript variant 1 | NM_005956.4:c.1958= | NM_005956.4:c.1958G>A |
| MTHFD1 transcript | NM_005956.3:c.1958= | NM_005956.3:c.1958G>A |
| MTHFD1 transcript variant 2 | NM_001364837.1:c.1958= | NM_001364837.1:c.1958G>A |
| C-1-tetrahydrofolate synthase, cytoplasmic isoform 1 | NP_005947.3:p.Arg653= | NP_005947.3:p.Arg653Gln |
| C-1-tetrahydrofolate synthase, cytoplasmic isoform 2 | NP_001351766.1:p.Arg653= | NP_001351766.1:p.Arg653Gln |
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#.
171 SubSNP,
29 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | YUSUKE | ss3190544 | Aug 15, 2001 (98) |
| 2 | WI_SSAHASNP | ss14374112 | Dec 05, 2003 (119) |
| 3 | CSHL-HAPMAP | ss19288250 | Feb 27, 2004 (120) |
| 4 | SSAHASNP | ss21156315 | Apr 05, 2004 (121) |
| 5 | PERLEGEN | ss24601855 | Sep 20, 2004 (123) |
| 6 | MGC_GENOME_DIFF | ss28504862 | Sep 24, 2004 (126) |
| 7 | ABI | ss40480712 | Mar 11, 2006 (126) |
| 8 | APPLERA_GI | ss48402352 | Mar 11, 2006 (126) |
| 9 | ILLUMINA | ss66644123 | Dec 01, 2006 (127) |
| 10 | ILLUMINA | ss67235981 | Dec 01, 2006 (127) |
| 11 | ILLUMINA | ss67632150 | Dec 01, 2006 (127) |
| 12 | PERLEGEN | ss69160030 | May 17, 2007 (127) |
| 13 | ILLUMINA | ss70714307 | May 24, 2008 (130) |
| 14 | ILLUMINA | ss71282059 | May 17, 2007 (127) |
| 15 | AFFY | ss74807896 | Aug 16, 2007 (128) |
| 16 | ILLUMINA | ss75517042 | Dec 06, 2007 (129) |
| 17 | AFFY | ss76540664 | Dec 08, 2007 (130) |
| 18 | HGSV | ss78644456 | Dec 06, 2007 (129) |
| 19 | ILLUMINA | ss79122013 | Dec 14, 2007 (130) |
| 20 | KRIBB_YJKIM | ss84003083 | Dec 14, 2007 (130) |
| 21 | HUMANGENOME_JCVI | ss96924316 | Feb 04, 2009 (130) |
| 22 | 1000GENOMES | ss108405493 | Jan 23, 2009 (130) |
| 23 | ILLUMINA | ss120037131 | Dec 01, 2009 (131) |
| 24 | ILLUMINA | ss121958908 | Dec 01, 2009 (131) |
| 25 | ENSEMBL | ss132335085 | Dec 01, 2009 (131) |
| 26 | ILLUMINA | ss153889586 | Dec 01, 2009 (131) |
| 27 | GMI | ss155906309 | Dec 01, 2009 (131) |
| 28 | ILLUMINA | ss159370566 | Dec 01, 2009 (131) |
| 29 | SEATTLESEQ | ss159729420 | Dec 01, 2009 (131) |
| 30 | ILLUMINA | ss171107989 | Jul 04, 2010 (132) |
| 31 | ILLUMINA | ss173200146 | Jul 04, 2010 (132) |
| 32 | BUSHMAN | ss200183752 | Jul 04, 2010 (132) |
| 33 | BCM-HGSC-SUB | ss206953685 | Jul 04, 2010 (132) |
| 34 | 1000GENOMES | ss226615547 | Jul 14, 2010 (132) |
| 35 | 1000GENOMES | ss236575899 | Jul 15, 2010 (132) |
| 36 | 1000GENOMES | ss243003712 | Jul 15, 2010 (132) |
| 37 | OMICIA | ss244239273 | May 27, 2010 (132) |
| 38 | ILLUMINA | ss244288225 | Jul 04, 2010 (132) |
| 39 | BL | ss255053160 | May 09, 2011 (134) |
| 40 | GMI | ss282038266 | May 04, 2012 (137) |
| 41 | PJP | ss291618011 | May 09, 2011 (134) |
| 42 | OMIM-CURATED-RECORDS | ss295493230 | Feb 15, 2011 (133) |
| 43 | NHLBI-ESP | ss342389264 | May 09, 2011 (134) |
| 44 | ILLUMINA | ss483319605 | May 04, 2012 (137) |
| 45 | ILLUMINA | ss483821334 | May 04, 2012 (137) |
| 46 | 1000GENOMES | ss491070521 | May 04, 2012 (137) |
| 47 | EXOME_CHIP | ss491486046 | May 04, 2012 (137) |
| 48 | CLINSEQ_SNP | ss491688819 | May 04, 2012 (137) |
| 49 | ILLUMINA | ss536018288 | Sep 08, 2015 (146) |
| 50 | TISHKOFF | ss564146976 | Apr 25, 2013 (138) |
| 51 | SSMP | ss659831938 | Apr 25, 2013 (138) |
| 52 | ILLUMINA | ss780421044 | Sep 08, 2015 (146) |
| 53 | ILLUMINA | ss780702126 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss782354215 | Sep 08, 2015 (146) |
| 55 | ILLUMINA | ss783376428 | Sep 08, 2015 (146) |
| 56 | ILLUMINA | ss825452531 | Apr 01, 2015 (144) |
| 57 | ILLUMINA | ss832882392 | Jul 13, 2019 (153) |
| 58 | ILLUMINA | ss835910295 | Sep 08, 2015 (146) |
| 59 | JMKIDD_LAB | ss974488896 | Aug 21, 2014 (142) |
| 60 | EVA-GONL | ss991238949 | Aug 21, 2014 (142) |
| 61 | JMKIDD_LAB | ss1067546356 | Aug 21, 2014 (142) |
| 62 | JMKIDD_LAB | ss1079726574 | Aug 21, 2014 (142) |
| 63 | 1000GENOMES | ss1351360898 | Aug 21, 2014 (142) |
| 64 | HAMMER_LAB | ss1397683162 | Sep 08, 2015 (146) |
| 65 | DDI | ss1427451320 | Apr 01, 2015 (144) |
| 66 | EVA_GENOME_DK | ss1577309929 | Apr 01, 2015 (144) |
| 67 | EVA_FINRISK | ss1584090244 | Apr 01, 2015 (144) |
| 68 | EVA_UK10K_ALSPAC | ss1631925059 | Apr 01, 2015 (144) |
| 69 | EVA_UK10K_TWINSUK | ss1674919092 | Apr 01, 2015 (144) |
| 70 | EVA_EXAC | ss1691518413 | Apr 01, 2015 (144) |
| 71 | EVA_DECODE | ss1695243012 | Apr 01, 2015 (144) |
| 72 | EVA_MGP | ss1711374960 | Apr 01, 2015 (144) |
| 73 | EVA_SVP | ss1713451214 | Apr 01, 2015 (144) |
| 74 | ILLUMINA | ss1752138450 | Sep 08, 2015 (146) |
| 75 | ILLUMINA | ss1917889545 | Feb 12, 2016 (147) |
| 76 | WEILL_CORNELL_DGM | ss1934613692 | Feb 12, 2016 (147) |
| 77 | ILLUMINA | ss1946379073 | Feb 12, 2016 (147) |
| 78 | ILLUMINA | ss1959561136 | Feb 12, 2016 (147) |
| 79 | GENOMED | ss1967983033 | Jul 19, 2016 (147) |
| 80 | JJLAB | ss2028086043 | Sep 14, 2016 (149) |
| 81 | USC_VALOUEV | ss2156462358 | Dec 20, 2016 (150) |
| 82 | HUMAN_LONGEVITY | ss2202721044 | Dec 20, 2016 (150) |
| 83 | ILLUMINA | ss2633162626 | Nov 08, 2017 (151) |
| 84 | ILLUMINA | ss2633162627 | Nov 08, 2017 (151) |
| 85 | GRF | ss2700890624 | Nov 08, 2017 (151) |
| 86 | ILLUMINA | ss2710802572 | Nov 08, 2017 (151) |
| 87 | GNOMAD | ss2740772717 | Nov 08, 2017 (151) |
| 88 | GNOMAD | ss2749154087 | Nov 08, 2017 (151) |
| 89 | GNOMAD | ss2928712602 | Nov 08, 2017 (151) |
| 90 | AFFY | ss2985023897 | Nov 08, 2017 (151) |
| 91 | AFFY | ss2985656807 | Nov 08, 2017 (151) |
| 92 | SWEGEN | ss3012345542 | Nov 08, 2017 (151) |
| 93 | ILLUMINA | ss3021577162 | Nov 08, 2017 (151) |
| 94 | EVA_SAMSUNG_MC | ss3023068605 | Nov 08, 2017 (151) |
| 95 | BIOINF_KMB_FNS_UNIBA | ss3027868684 | Nov 08, 2017 (151) |
| 96 | CSHL | ss3350848041 | Nov 08, 2017 (151) |
| 97 | ILLUMINA | ss3627239602 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3627239603 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3631160177 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3634580857 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3638055426 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3639041288 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3639525363 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3640288184 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3641882772 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3643041834 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3644632187 | Oct 12, 2018 (152) |
| 108 | OMUKHERJEE_ADBS | ss3646461373 | Oct 12, 2018 (152) |
| 109 | URBANLAB | ss3650226690 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3651970437 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3653795011 | Oct 12, 2018 (152) |
| 112 | EGCUT_WGS | ss3679599806 | Jul 13, 2019 (153) |
| 113 | EVA_DECODE | ss3696855018 | Jul 13, 2019 (153) |
| 114 | ILLUMINA | ss3725455356 | Jul 13, 2019 (153) |
| 115 | ACPOP | ss3740459886 | Jul 13, 2019 (153) |
| 116 | ILLUMINA | ss3744412694 | Jul 13, 2019 (153) |
| 117 | ILLUMINA | ss3744881454 | Jul 13, 2019 (153) |
| 118 | EVA | ss3752430835 | Jul 13, 2019 (153) |
| 119 | PAGE_CC | ss3771794688 | Jul 13, 2019 (153) |
| 120 | ILLUMINA | ss3772380286 | Jul 13, 2019 (153) |
| 121 | PACBIO | ss3787690089 | Jul 13, 2019 (153) |
| 122 | PACBIO | ss3792724789 | Jul 13, 2019 (153) |
| 123 | PACBIO | ss3797609068 | Jul 13, 2019 (153) |
| 124 | KHV_HUMAN_GENOMES | ss3817763635 | Jul 13, 2019 (153) |
| 125 | EVA | ss3824857568 | Apr 27, 2020 (154) |
| 126 | EVA | ss3825529427 | Apr 27, 2020 (154) |
| 127 | EVA | ss3825544493 | Apr 27, 2020 (154) |
| 128 | EVA | ss3825847391 | Apr 27, 2020 (154) |
| 129 | EVA | ss3833965242 | Apr 27, 2020 (154) |
| 130 | EVA | ss3840575987 | Apr 27, 2020 (154) |
| 131 | EVA | ss3846065309 | Apr 27, 2020 (154) |
| 132 | HGDP | ss3847506339 | Apr 27, 2020 (154) |
| 133 | SGDP_PRJ | ss3881694939 | Apr 27, 2020 (154) |
| 134 | KRGDB | ss3930727839 | Apr 27, 2020 (154) |
| 135 | KOGIC | ss3975102802 | Apr 27, 2020 (154) |
| 136 | FSA-LAB | ss3984057829 | Apr 27, 2021 (155) |
| 137 | EVA | ss3984692917 | Apr 27, 2021 (155) |
| 138 | EVA | ss3985685002 | Apr 27, 2021 (155) |
| 139 | EVA | ss3986621624 | Apr 27, 2021 (155) |
| 140 | EVA | ss4017674777 | Apr 27, 2021 (155) |
| 141 | TOPMED | ss4973747892 | Apr 27, 2021 (155) |
| 142 | TOMMO_GENOMICS | ss5213635312 | Apr 27, 2021 (155) |
| 143 | EVA | ss5236917755 | Apr 27, 2021 (155) |
| 144 | EVA | ss5237662681 | Oct 16, 2022 (156) |
| 145 | FAHOSYSU | ss5240819076 | Oct 16, 2022 (156) |
| 146 | 1000G_HIGH_COVERAGE | ss5296536174 | Oct 16, 2022 (156) |
| 147 | TRAN_CS_UWATERLOO | ss5314439206 | Oct 16, 2022 (156) |
| 148 | EVA | ss5315743883 | Oct 16, 2022 (156) |
| 149 | EVA | ss5415835076 | Oct 16, 2022 (156) |
| 150 | HUGCELL_USP | ss5490548061 | Oct 16, 2022 (156) |
| 151 | 1000G_HIGH_COVERAGE | ss5596976635 | Oct 16, 2022 (156) |
| 152 | EVA | ss5623962277 | Oct 16, 2022 (156) |
| 153 | EVA | ss5624046014 | Oct 16, 2022 (156) |
| 154 | SANFORD_IMAGENETICS | ss5624346065 | Oct 16, 2022 (156) |
| 155 | SANFORD_IMAGENETICS | ss5656398455 | Oct 16, 2022 (156) |
| 156 | TOMMO_GENOMICS | ss5766553946 | Oct 16, 2022 (156) |
| 157 | EVA | ss5799451787 | Oct 16, 2022 (156) |
| 158 | EVA | ss5800066968 | Oct 16, 2022 (156) |
| 159 | EVA | ss5800188251 | Oct 16, 2022 (156) |
| 160 | YY_MCH | ss5814829932 | Oct 16, 2022 (156) |
| 161 | EVA | ss5841231079 | Oct 16, 2022 (156) |
| 162 | EVA | ss5846863867 | Oct 16, 2022 (156) |
| 163 | EVA | ss5847438774 | Oct 16, 2022 (156) |
| 164 | EVA | ss5847723483 | Oct 16, 2022 (156) |
| 165 | EVA | ss5848385840 | Oct 16, 2022 (156) |
| 166 | EVA | ss5851071281 | Oct 16, 2022 (156) |
| 167 | EVA | ss5901699073 | Oct 16, 2022 (156) |
| 168 | EVA | ss5936557619 | Oct 16, 2022 (156) |
| 169 | EVA | ss5947837987 | Oct 16, 2022 (156) |
| 170 | EVA | ss5979443474 | Oct 16, 2022 (156) |
| 171 | EVA | ss5981284976 | Oct 16, 2022 (156) |
| 172 | 1000Genomes | NC_000014.8 - 64908845 | Oct 12, 2018 (152) |
| 173 | 1000Genomes_30x | NC_000014.9 - 64442127 | Oct 16, 2022 (156) |
| 174 | The Avon Longitudinal Study of Parents and Children | NC_000014.8 - 64908845 | Oct 12, 2018 (152) |
| 175 | Genome-wide autozygosity in Daghestan | NC_000014.7 - 63978598 | Apr 27, 2020 (154) |
| 176 | Genetic variation in the Estonian population | NC_000014.8 - 64908845 | Oct 12, 2018 (152) |
| 177 | ExAC | NC_000014.8 - 64908845 | Oct 12, 2018 (152) |
| 178 | FINRISK | NC_000014.8 - 64908845 | Apr 27, 2020 (154) |
| 179 | The Danish reference pan genome | NC_000014.8 - 64908845 | Apr 27, 2020 (154) |
| 180 | gnomAD - Genomes | NC_000014.9 - 64442127 | Apr 27, 2021 (155) |
| 181 | gnomAD - Exomes | NC_000014.8 - 64908845 | Jul 13, 2019 (153) |
| 182 | Genome of the Netherlands Release 5 | NC_000014.8 - 64908845 | Apr 27, 2020 (154) |
| 183 | HGDP-CEPH-db Supplement 1 | NC_000014.7 - 63978598 | Apr 27, 2020 (154) |
| 184 | HapMap | NC_000014.9 - 64442127 | Apr 27, 2020 (154) |
| 185 | KOREAN population from KRGDB | NC_000014.8 - 64908845 | Apr 27, 2020 (154) |
| 186 | Korean Genome Project | NC_000014.9 - 64442127 | Apr 27, 2020 (154) |
| 187 | Medical Genome Project healthy controls from Spanish population | NC_000014.8 - 64908845 | Apr 27, 2020 (154) |
| 188 | Northern Sweden | NC_000014.8 - 64908845 | Jul 13, 2019 (153) |
| 189 | The PAGE Study | NC_000014.9 - 64442127 | Jul 13, 2019 (153) |
| 190 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000014.8 - 64908845 | Apr 27, 2021 (155) |
| 191 | CNV burdens in cranial meningiomas | NC_000014.8 - 64908845 | Apr 27, 2021 (155) |
| 192 | Qatari | NC_000014.8 - 64908845 | Apr 27, 2020 (154) |
| 193 | SGDP_PRJ | NC_000014.8 - 64908845 | Apr 27, 2020 (154) |
| 194 | Siberian | NC_000014.8 - 64908845 | Apr 27, 2020 (154) |
| 195 | 8.3KJPN | NC_000014.8 - 64908845 | Apr 27, 2021 (155) |
| 196 | 14KJPN | NC_000014.9 - 64442127 | Oct 16, 2022 (156) |
| 197 | TopMed | NC_000014.9 - 64442127 | Apr 27, 2021 (155) |
| 198 | UK 10K study - Twins | NC_000014.8 - 64908845 | Oct 12, 2018 (152) |
| 199 | A Vietnamese Genetic Variation Database | NC_000014.8 - 64908845 | Jul 13, 2019 (153) |
| 200 | ALFA | NC_000014.9 - 64442127 | Apr 27, 2021 (155) |
| 201 | ClinVar | RCV000014603.5 | Apr 27, 2021 (155) |
| 202 | ClinVar | RCV000455528.4 | Oct 16, 2022 (156) |
| 203 | ClinVar | RCV001513968.6 | Oct 16, 2022 (156) |
| 204 | ClinVar | RCV001775541.2 | Oct 16, 2022 (156) |
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) |
|---|---|
| rs17751608 | Oct 08, 2004 (123) |
| rs17850560 | Mar 11, 2006 (126) |
| rs52810262 | Sep 21, 2007 (128) |
| rs56503831 | May 24, 2008 (130) |
| rs58065500 | May 24, 2008 (130) |
| rs117048039 | Aug 16, 2010 (132) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 153486, 184231, ss76540664, ss78644456, ss108405493, ss200183752, ss206953685, ss255053160, ss282038266, ss291618011, ss483319605, ss491688819, ss825452531, ss1397683162, ss1695243012, ss1713451214, ss3639041288, ss3639525363, ss3643041834, ss3847506339 | NC_000014.7:63978597:G:A | NC_000014.9:64442126:G:A | (self) |
| 64355169, 35752869, 25338054, 1866769, 86705, 3640330, 10026037, 15967584, 37905233, 490720, 13744751, 910929, 242434, 16655622, 33711919, 8978712, 71604619, 35752869, 7954629, ss226615547, ss236575899, ss243003712, ss342389264, ss483821334, ss491070521, ss491486046, ss536018288, ss564146976, ss659831938, ss780421044, ss780702126, ss782354215, ss783376428, ss832882392, ss835910295, ss974488896, ss991238949, ss1067546356, ss1079726574, ss1351360898, ss1427451320, ss1577309929, ss1584090244, ss1631925059, ss1674919092, ss1691518413, ss1711374960, ss1752138450, ss1917889545, ss1934613692, ss1946379073, ss1959561136, ss1967983033, ss2028086043, ss2156462358, ss2633162626, ss2633162627, ss2700890624, ss2710802572, ss2740772717, ss2749154087, ss2928712602, ss2985023897, ss2985656807, ss3012345542, ss3021577162, ss3023068605, ss3350848041, ss3627239602, ss3627239603, ss3631160177, ss3634580857, ss3638055426, ss3640288184, ss3641882772, ss3644632187, ss3646461373, ss3651970437, ss3653795011, ss3679599806, ss3740459886, ss3744412694, ss3744881454, ss3752430835, ss3772380286, ss3787690089, ss3792724789, ss3797609068, ss3824857568, ss3825529427, ss3825544493, ss3825847391, ss3833965242, ss3840575987, ss3881694939, ss3930727839, ss3984057829, ss3984692917, ss3985685002, ss3986621624, ss4017674777, ss5213635312, ss5315743883, ss5415835076, ss5623962277, ss5624046014, ss5624346065, ss5656398455, ss5799451787, ss5800066968, ss5800188251, ss5841231079, ss5847438774, ss5847723483, ss5848385840, ss5936557619, ss5947837987, ss5979443474, ss5981284976 | NC_000014.8:64908844:G:A | NC_000014.9:64442126:G:A | (self) |
| RCV000014603.5, RCV000455528.4, RCV001513968.6, RCV001775541.2, 84502570, 453767249, 1162998, 31480803, 1016157, 100391050, 189293551, 11144582063, ss244239273, ss295493230, ss2202721044, ss3027868684, ss3650226690, ss3696855018, ss3725455356, ss3771794688, ss3817763635, ss3846065309, ss3975102802, ss4973747892, ss5236917755, ss5237662681, ss5240819076, ss5296536174, ss5314439206, ss5490548061, ss5596976635, ss5766553946, ss5814829932, ss5846863867, ss5851071281, ss5901699073 | NC_000014.9:64442126:G:A | NC_000014.9:64442126:G:A | (self) |
| ss14374112, ss19288250, ss21156315 | NT_026437.10:44828885:G:A | NC_000014.9:64442126:G:A | (self) |
| ss3190544, ss24601855, ss28504862, ss40480712, ss48402352, ss66644123, ss67235981, ss67632150, ss69160030, ss70714307, ss71282059, ss74807896, ss75517042, ss79122013, ss84003083, ss96924316, ss120037131, ss121958908, ss132335085, ss153889586, ss155906309, ss159370566, ss159729420, ss171107989, ss173200146, ss244288225 | NT_026437.12:45908844:G:A | NC_000014.9:64442126:G:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
107
citations for rs2236225
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 9611072 | Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. | Hol FA et al. | 1998 | Clinical genetics |
| 12384833 | A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. | Brody LC et al. | 2002 | American journal of human genetics |
| 15633187 | MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae. | Parle-McDermott A et al. | 2005 | American journal of medical genetics. Part A |
| 16315005 | Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. | De Marco P et al. | 2006 | Journal of human genetics |
| 16552426 | Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. | Parle-McDermott A et al. | 2006 | European journal of human genetics |
| 16816108 | Common genetic polymorphisms affect the human requirement for the nutrient choline. | da Costa KA et al. | 2006 | FASEB journal |
| 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 |
| 17613168 | Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline. | Zeisel SH et al. | 2007 | IUBMB life |
| 17616785 | Lymphocyte gene expression in subjects fed a low-choline diet differs between those who develop organ dysfunction and those who do not. | Niculescu MD et al. | 2007 | The American journal of clinical nutrition |
| 17894836 | The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population. | van der Linden IJ et al. | 2007 | Clinical genetics |
| 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 |
| 18221821 | Association of polymorphisms in one-carbon metabolizing genes and lung cancer risk: a case-control study in Chinese population. | Liu H et al. | 2008 | Lung cancer (Amsterdam, Netherlands) |
| 18277167 | Genetic risk factors for placental abruption: a HuGE review and meta-analysis. | Zdoukopoulos N et al. | 2008 | Epidemiology (Cambridge, Mass.) |
| 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 |
| 18789905 | Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models. | Zeisel SH et al. | 2008 | Brain research |
| 18992148 | Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study. | Küry S et al. | 2008 | BMC cancer |
| 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 |
| 19130090 | Analysis of the MTHFD1 promoter and risk of neural tube defects. | Carroll N et al. | 2009 | Human genetics |
| 19167960 | Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted. | Ivanov A et al. | 2009 | Journal of the American Dietetic Association |
| 19261726 | Epigenetic mechanisms for nutrition determinants of later health outcomes. | Zeisel SH et al. | 2009 | The American journal of clinical nutrition |
| 19379518 | Development of a fingerprinting panel using medically relevant polymorphisms. | Cross DS et al. | 2009 | BMC medical genomics |
| 19493349 | 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. | Shaw GM et al. | 2009 | BMC medical genetics |
| 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 |
| 19808787 | Genetics of human neural tube defects. | Greene ND et al. | 2009 | Human molecular genetics |
| 19936946 | Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. | Hazra A et al. | 2010 | Cancer causes & control |
| 20018050 | Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data. | Ling H et al. | 2009 | BMC proceedings |
| 20217437 | Association analysis of CbetaS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer's disease in Chinese. | Bi XH et al. | 2010 | Journal of neural transmission (Vienna, Austria |
| 20436254 | Choline: clinical nutrigenetic/nutrigenomic approaches for identification of functions and dietary requirements. | Zeisel SH et al. | 2010 | World review of nutrition and dietetics |
| 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 |
| 20565774 | Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. | Cross DS et al. | 2010 | BMC genetics |
| 20890936 | Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population. | Bufalino A et al. | 2010 | Birth defects research. Part A, Clinical and molecular teratology |
| 21146954 | Genes and abdominal aortic aneurysm. | Hinterseher I et al. | 2011 | Annals of vascular surgery |
| 21254359 | Folate pathway and nonsyndromic cleft lip and palate. | Blanton SH et al. | 2011 | Birth defects research. Part A, Clinical and molecular teratology |
| 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 |
| 21349258 | Folate and choline metabolism gene variants and development of uterine cervical carcinoma. | Mostowska A et al. | 2011 | Clinical biochemistry |
| 21429654 | Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility. | Szczepańska M et al. | 2011 | European journal of obstetrics, gynecology, and reproductive biology |
| 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 |
| 21474952 | Choline: clinical nutrigenetic/nutrigenomic approaches for identification of functions and dietary requirements. | Zeisel SH et al. | 2010 | Journal of nutrigenetics and nutrigenomics |
| 21537397 | Candidate pathway polymorphisms in one-carbon metabolism and risk of rectal tumor mutations. | Curtin K et al. | 2011 | International journal of molecular epidemiology and genetics |
| 21615938 | Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder. | Aneiros-Guerrero A et al. | 2011 | BMC medical genetics |
| 21688148 | Polymorphic variants of genes involved in homocysteine metabolism in celiac disease. | Hozyasz KK et al. | 2012 | Molecular biology reports |
| 21747588 | Genetic variation in genes involved in folate and drug metabolism in a south Indian population. | Rai PS et al. | 2011 | Indian journal of human genetics |
| 21748308 | Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia. | Metayer C et al. | 2011 | Cancer causes & control |
| 21857689 | Folate and vitamin B12 in idiopathic male infertility. | Murphy LE et al. | 2011 | Asian journal of andrology |
| 22024213 | A novel gene-environment interaction involved in endometriosis. | McCarty CA et al. | 2012 | International journal of gynaecology and obstetrics |
| 22116453 | Folate and vitamin B12-related genes and risk for omphalocele. | Mills JL et al. | 2012 | Human genetics |
| 22183302 | Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population. | Pawlik P et al. | 2012 | Molecular biology reports |
| 22496743 | Genetic variant of AMD1 is associated with obesity in urban Indian children. | Tabassum R et al. | 2012 | PloS one |
| 22792358 | Association between genetic variants in DNA and histone methylation and telomere length. | Kim S et al. | 2012 | PloS one |
| 22856873 | Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. | Pangilinan F et al. | 2012 | BMC medical genetics |
| 22903727 | Maternal and infant gene-folate interactions and the risk of neural tube defects. | Etheredge AJ et al. | 2012 | American journal of medical genetics. Part A |
| 23276522 | Genetic variation of fifteen folate metabolic pathway associated gene loci and the risk of incident head and neck carcinoma: the Women's Genome Health Study. | Zee RY et al. | 2013 | Clinica chimica acta; international journal of clinical chemistry |
| 23294634 | Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction. | Dai H et al. | 2013 | BioData mining |
| 23446900 | One-carbon metabolism factors and leukocyte telomere length. | Liu JJ et al. | 2013 | The American journal of clinical nutrition |
| 23940529 | Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis. | Lautner-Csorba O et al. | 2013 | PloS one |
| 23946381 | Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. | Ma X et al. | 2014 | Gut |
| 24033266 | A systematic approach to assessing the clinical significance of genetic variants. | Duzkale H et al. | 2013 | Clinical genetics |
| 24048206 | Neural tube defects, folic acid and methylation. | Imbard A et al. | 2013 | International journal of environmental research and public health |
| 24130171 | Global DNA methylation and one-carbon metabolism gene polymorphisms and the risk of breast cancer in the Sister Study. | Deroo LA et al. | 2014 | Carcinogenesis |
| 24223580 | Folate-related gene variants in Irish families affected by neural tube defects. | Fisk Green R et al. | 2013 | Frontiers in genetics |
| 24254627 | MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population. | de Aquino SN et al. | 2014 | Birth defects research. Part A, Clinical and molecular teratology |
| 24524080 | The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism. | Liang S et al. | 2014 | BioMed research international |
| 24977710 | Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis. | Jiang J et al. | 2014 | PloS one |
| 24991206 | Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma. | Goricar K et al. | 2014 | Radiology and oncology |
| 25039261 | Association study of MTHFD1 coding polymorphisms R134K and R653Q with migraine susceptibility. | Sutherland HG et al. | 2014 | Headache |
| 25074646 | Associations of common variants in methionine metabolism pathway genes with plasma homocysteine and the risk of type 2 diabetes in Han Chinese. | Huang T et al. | 2014 | Journal of nutrigenetics and nutrigenomics |
| 25079255 | A pilot study on the contribution of folate gene variants in the cognitive function of ADHD probands. | Saha T et al. | 2014 | Neurochemical research |
| 25129243 | Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population. | Murthy J et al. | 2014 | Medicina oral, patologia oral y cirugia bucal |
| 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 |
| 25293959 | Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects. | Pangilinan F et al. | 2014 | BMC medical genetics |
| 25303517 | Association of ITPA genotype with event-free survival and relapse rates in children with acute lymphoblastic leukemia undergoing maintenance therapy. | Smid A et al. | 2014 | PloS one |
| 25524527 | Association between MTHFD1 polymorphisms and neural tube defect susceptibility. | Meng J et al. | 2015 | Journal of the neurological sciences |
| 25671679 | Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women. | Izci Ay O et al. | 2015 | Genetic testing and molecular biomarkers |
| 25921832 | Evidence for negative selection of gene variants that increase dependence on dietary choline in a Gambian cohort. | Silver MJ et al. | 2015 | FASEB journal |
| 26250961 | Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele. | Mazumdar M et al. | 2015 | Birth defects research. Part A, Clinical and molecular teratology |
| 26343515 | Polymorphisms in MTHFD1 Gene and Susceptibility to Neural Tube Defects: A Case-Control Study in a Chinese Han Population with Relatively Low Folate Levels. | Wu J et al. | 2015 | Medical science monitor |
| 26394717 | Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring. | Prasoona KR et al. | 2016 | Developmental medicine and child neurology |
| 26834978 | Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis. | Zhao H et al. | 2015 | F1000Research |
| 27014279 | Autosomal Minor Histocompatibility Antigens: How Genetic Variants Create Diversity in Immune Targets. | Griffioen M et al. | 2016 | Frontiers in immunology |
| 27342765 | Genetic impairments in folate enzymes increase dependence on dietary choline for phosphatidylcholine production at the expense of betaine synthesis. | Ganz AB et al. | 2016 | FASEB journal |
| 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 |
| 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 |
| 27872106 | Methylenetetrahydrofolate Dehydrogenase 1 Polymorphisms Modify the Associations of Plasma Glycine and Serine With Risk of Acute Myocardial Infarction in Patients With Stable Angina Pectoris in WENBIT (Western Norway B Vitamin Intervention Trial). | Ding Y et al. | 2016 | Circulation. Cardiovascular genetics |
| 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 |
| 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 |
| 28422153 | Clinical-pharmacogenetic models for personalized cancer treatment: application to malignant mesothelioma. | Goričar K et al. | 2017 | Scientific reports |
| 28559181 | Deletion of one allele of Mthfd1 (methylenetetrahydrofolate dehydrogenase 1) impairs learning in mice. | Pjetri E et al. | 2017 | Behavioural brain research |
| 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 |
| 28865601 | Relationship of the MTHFD1 (rs2236225), eNOS (rs1799983), CBS (rs2850144) and ACE (rs4343) gene polymorphisms in a population of Iranian pediatric patients with congenital heart defects. | Khatami M et al. | 2017 | The Kaohsiung journal of medical sciences |
| 29392422 | Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. | Fang Y et al. | 2018 | Child's nervous system |
| 29520081 | Evaluation of a clinical pharmacogenetics model to predict methotrexate response in patients with rheumatoid arthritis. | López-Rodríguez R et al. | 2018 | The pharmacogenomics journal |
| 30574831 | LINE-1 and EPAS1 DNA methylation associations with high-altitude exposure. | Childebayeva A et al. | 2019 | Epigenetics |
| 30628539 | Validation of a clinical pharmacogenetic model to predict methotrexate nonresponse in rheumatoid arthritis patients. | Eektimmerman F et al. | 2019 | Pharmacogenomics |
| 30867013 | Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway. | Cai CQ et al. | 2019 | Italian journal of pediatrics |
| 31099277 | Association of methionine synthase (rs1805087), methionine synthase reductase (rs1801394), and methylenetetrahydrofolate dehydrogenase 1 (rs2236225) genetic polymorphisms with recurrent implantation failure. | Cho SH et al. | 2021 | Human fertility (Cambridge, England) |
| 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 |
| 32238907 | CpG-SNP site methylation regulates allele-specific expression of MTHFD1 gene in type 2 diabetes. | Vohra M et al. | 2020 | Laboratory investigation; a journal of technical methods and pathology |
| 32443475 | Independent and Interactive Influences of Environmental UVR, Vitamin D Levels, and Folate Variant MTHFD1-rs2236225 on Homocysteine Levels. | Jones P et al. | 2020 | Nutrients |
| 32617779 | Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population. | Machado RA et al. | 2021 | Clinical oral investigations |
| 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 |
| 33780152 | Polymorphism of genes involved in methotrexate pathway: Predictors of response to methotrexate therapy in Indian rheumatoid arthritis patients. | Singh A et al. | 2021 | International journal of rheumatic diseases |
| 34131278 | Genetic polymorphisms associated with obesity in the Arab world: a systematic review. | Younes S et al. | 2021 | International journal of obesity (2005) |
| 34233321 | Comparison of Associations between One-Carbon Metabolism, Lipid Metabolism, and Fatty Liver Markers in Normal-Weight and Overweight People Aged 20-40 Years. | Młodzik-Czyżewska MA et al. | 2021 | Annals of nutrition & metabolism |
| 34254644 | Association between SNPs and hepatotoxicity in patients with primary central nervous system lymphoma on high-dose methotrexate therapy. | Zhao Q et al. | 2021 | The Journal of pharmacy and pharmacology |
| 35100977 | Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study. | Song X et al. | 2022 | BMC pregnancy and childbirth |
| 35668704 | Associations of plasma betaine, plasma choline, choline intake, and MTHFR polymorphism (rs1801133) with anthropometric parameters of healthy adults are sex-dependent. | Mlodzik-Czyzewska MA et al. | 2022 | Journal of human nutrition and dietetics |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
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.