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.
rs4846049
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:11790308 (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
- T>A / T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.363758 (96283/264690, TOPMED)T=0.370071 (51824/140038, GnomAD)T=0.36444 (28676/78686, PAGE_STUDY) (+ 19 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MTHFR : 3 Prime UTR Variant
- Publications
- 29 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 | 44298 | T=0.35333 | A=0.00000, G=0.64667 |
| European | Sub | 30078 | T=0.33413 | A=0.00000, G=0.66587 |
| African | Sub | 5950 | T=0.5689 | A=0.0000, G=0.4311 |
| African Others | Sub | 190 | T=0.595 | A=0.000, G=0.405 |
| African American | Sub | 5760 | T=0.5681 | A=0.0000, G=0.4319 |
| Asian | Sub | 376 | T=0.239 | A=0.000, G=0.761 |
| East Asian | Sub | 328 | T=0.210 | A=0.000, G=0.790 |
| Other Asian | Sub | 48 | T=0.44 | A=0.00, G=0.56 |
| Latin American 1 | Sub | 442 | T=0.382 | A=0.000, G=0.618 |
| Latin American 2 | Sub | 4306 | T=0.1935 | A=0.0000, G=0.8065 |
| South Asian | Sub | 84 | T=0.50 | A=0.00, G=0.50 |
| Other | Sub | 3062 | T=0.3537 | A=0.0000, G=0.6463 |
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=0.363758 | G=0.636242 |
| gnomAD - Genomes | Global | Study-wide | 140038 | T=0.370071 | G=0.629929 |
| gnomAD - Genomes | European | Sub | 75876 | T=0.32612 | G=0.67388 |
| gnomAD - Genomes | African | Sub | 41928 | T=0.50482 | G=0.49518 |
| gnomAD - Genomes | American | Sub | 13638 | T=0.24894 | G=0.75106 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | T=0.3148 | G=0.6852 |
| gnomAD - Genomes | East Asian | Sub | 3126 | T=0.2322 | G=0.7678 |
| gnomAD - Genomes | Other | Sub | 2150 | T=0.3474 | G=0.6526 |
| The PAGE Study | Global | Study-wide | 78686 | T=0.36444 | G=0.63556 |
| The PAGE Study | AfricanAmerican | Sub | 32506 | T=0.49622 | G=0.50378 |
| The PAGE Study | Mexican | Sub | 10808 | T=0.20179 | G=0.79821 |
| The PAGE Study | Asian | Sub | 8318 | T=0.2046 | G=0.7954 |
| The PAGE Study | PuertoRican | Sub | 7918 | T=0.3420 | G=0.6580 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | T=0.2624 | G=0.7376 |
| The PAGE Study | Cuban | Sub | 4228 | T=0.3271 | G=0.6729 |
| The PAGE Study | Dominican | Sub | 3828 | T=0.4075 | G=0.5925 |
| The PAGE Study | CentralAmerican | Sub | 2450 | T=0.2282 | G=0.7718 |
| The PAGE Study | SouthAmerican | Sub | 1982 | T=0.2286 | G=0.7714 |
| The PAGE Study | NativeAmerican | Sub | 1260 | T=0.3222 | G=0.6778 |
| The PAGE Study | SouthAsian | Sub | 856 | T=0.473 | G=0.527 |
| Allele Frequency Aggregator | Total | Global | 44298 | T=0.35333 | A=0.00000, G=0.64667 |
| Allele Frequency Aggregator | European | Sub | 30078 | T=0.33413 | A=0.00000, G=0.66587 |
| Allele Frequency Aggregator | African | Sub | 5950 | T=0.5689 | A=0.0000, G=0.4311 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 4306 | T=0.1935 | A=0.0000, G=0.8065 |
| Allele Frequency Aggregator | Other | Sub | 3062 | T=0.3537 | A=0.0000, G=0.6463 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 442 | T=0.382 | A=0.000, G=0.618 |
| Allele Frequency Aggregator | Asian | Sub | 376 | T=0.239 | A=0.000, G=0.761 |
| Allele Frequency Aggregator | South Asian | Sub | 84 | T=0.50 | A=0.00, G=0.50 |
| 14KJPN | JAPANESE | Study-wide | 28258 | T=0.19824 | G=0.80176 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.19714 | G=0.80286 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.3729 | G=0.6271 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.5319 | G=0.4681 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.3175 | G=0.6825 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=0.4958 | G=0.5042 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=0.2214 | G=0.7786 |
| 1000Genomes_30x | American | Sub | 980 | T=0.185 | G=0.815 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.3716 | G=0.6284 |
| 1000Genomes | African | Sub | 1322 | T=0.5250 | G=0.4750 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.2262 | G=0.7738 |
| 1000Genomes | Europe | Sub | 1006 | T=0.3231 | G=0.6769 |
| 1000Genomes | South Asian | Sub | 978 | T=0.495 | G=0.505 |
| 1000Genomes | American | Sub | 694 | T=0.187 | G=0.813 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.3047 | G=0.6953 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.3262 | G=0.6738 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.3325 | G=0.6675 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | T=0.1737 | A=0.0000, G=0.8263 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | T=0.1681 | G=0.8319 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.330 | G=0.670 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 776 | T=0.159 | G=0.841 |
| CNV burdens in cranial meningiomas | CRM | Sub | 776 | T=0.159 | G=0.841 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.337 | G=0.663 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | T=0.921 | G=0.079 |
| SGDP_PRJ | Global | Study-wide | 496 | T=0.244 | G=0.756 |
| HapMap | Global | Study-wide | 330 | T=0.352 | G=0.648 |
| HapMap | African | Sub | 120 | T=0.458 | G=0.542 |
| HapMap | American | Sub | 120 | T=0.375 | G=0.625 |
| HapMap | Asian | Sub | 90 | T=0.18 | G=0.82 |
| Qatari | Global | Study-wide | 216 | T=0.394 | G=0.606 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 216 | T=0.389 | G=0.611 |
| Siberian | Global | Study-wide | 56 | T=0.29 | G=0.71 |
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 1 | NC_000001.11:g.11790308T>A |
| GRCh38.p14 chr 1 | NC_000001.11:g.11790308T>G |
| GRCh37.p13 chr 1 | NC_000001.10:g.11850365T>A |
| GRCh37.p13 chr 1 | NC_000001.10:g.11850365T>G |
| MTHFR RefSeqGene (LRG_726) | NG_013351.1:g.20796A>T |
| MTHFR RefSeqGene (LRG_726) | NG_013351.1:g.20796A>C |
Gene: MTHFR, methylenetetrahydrofolate reductase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MTHFR transcript variant 2 | NM_005957.5:c.*372= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant 1 | NM_001330358.2:c.*372= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X1 | XM_011541495.4:c.*372= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X1 | XM_011541496.4:c.*232= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X2 | XM_047421174.1:c.*232= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X3 | XM_005263462.5:c.*372= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X4 | XM_047421178.1:c.*372= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X5 | XM_017001328.3:c.*372= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X6 | XM_047421179.1:c.*232= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X7 | XM_047421180.1:c.*372= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X8 | XM_047421181.1:c.*372= | N/A | 3 Prime UTR Variant |
| MTHFR transcript variant X9 | XM_005263463.5:c.*372= | N/A | 3 Prime UTR 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:
276753
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV001523551.3 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 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= | A | G |
|---|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.11790308= | NC_000001.11:g.11790308T>A | NC_000001.11:g.11790308T>G |
| GRCh37.p13 chr 1 | NC_000001.10:g.11850365= | NC_000001.10:g.11850365T>A | NC_000001.10:g.11850365T>G |
| MTHFR RefSeqGene (LRG_726) | NG_013351.1:g.20796= | NG_013351.1:g.20796A>T | NG_013351.1:g.20796A>C |
| MTHFR transcript variant 2 | NM_005957.5:c.*372= | NM_005957.5:c.*372A>T | NM_005957.5:c.*372A>C |
| MTHFR transcript variant 2 | NM_005957.4:c.*372= | NM_005957.4:c.*372A>T | NM_005957.4:c.*372A>C |
| MTHFR transcript variant 1 | NM_001330358.2:c.*372= | NM_001330358.2:c.*372A>T | NM_001330358.2:c.*372A>C |
| MTHFR transcript variant 1 | NM_001330358.1:c.*372= | NM_001330358.1:c.*372A>T | NM_001330358.1:c.*372A>C |
| MTHFR transcript variant 3 | NM_001410750.1:c.*372= | NM_001410750.1:c.*372A>T | NM_001410750.1:c.*372A>C |
| MTHFR transcript variant X3 | XM_005263462.5:c.*372= | XM_005263462.5:c.*372A>T | XM_005263462.5:c.*372A>C |
| MTHFR transcript variant X4 | XM_005263462.4:c.*372= | XM_005263462.4:c.*372A>T | XM_005263462.4:c.*372A>C |
| MTHFR transcript variant X6 | XM_005263462.3:c.*372= | XM_005263462.3:c.*372A>T | XM_005263462.3:c.*372A>C |
| MTHFR transcript variant X5 | XM_005263462.2:c.*372= | XM_005263462.2:c.*372A>T | XM_005263462.2:c.*372A>C |
| MTHFR transcript variant X5 | XM_005263462.1:c.*372= | XM_005263462.1:c.*372A>T | XM_005263462.1:c.*372A>C |
| MTHFR transcript variant X9 | XM_005263463.5:c.*372= | XM_005263463.5:c.*372A>T | XM_005263463.5:c.*372A>C |
| MTHFR transcript variant X6 | XM_005263463.4:c.*372= | XM_005263463.4:c.*372A>T | XM_005263463.4:c.*372A>C |
| MTHFR transcript variant X7 | XM_005263463.3:c.*372= | XM_005263463.3:c.*372A>T | XM_005263463.3:c.*372A>C |
| MTHFR transcript variant X7 | XM_005263463.2:c.*372= | XM_005263463.2:c.*372A>T | XM_005263463.2:c.*372A>C |
| MTHFR transcript variant X6 | XM_005263463.1:c.*372= | XM_005263463.1:c.*372A>T | XM_005263463.1:c.*372A>C |
| MTHFR transcript variant X1 | XM_011541495.4:c.*372= | XM_011541495.4:c.*372A>T | XM_011541495.4:c.*372A>C |
| MTHFR transcript variant X1 | XM_011541496.4:c.*232= | XM_011541496.4:c.*232A>T | XM_011541496.4:c.*232A>C |
| MTHFR transcript variant X2 | XM_011541496.3:c.*232= | XM_011541496.3:c.*232A>T | XM_011541496.3:c.*232A>C |
| MTHFR transcript variant X3 | XM_011541496.2:c.*232= | XM_011541496.2:c.*232A>T | XM_011541496.2:c.*232A>C |
| MTHFR transcript variant X3 | XM_011541496.1:c.*232= | XM_011541496.1:c.*232A>T | XM_011541496.1:c.*232A>C |
| MTHFR transcript variant X5 | XM_017001328.3:c.*372= | XM_017001328.3:c.*372A>T | XM_017001328.3:c.*372A>C |
| MTHFR transcript variant X4 | XM_047421178.1:c.*372= | XM_047421178.1:c.*372A>T | XM_047421178.1:c.*372A>C |
| MTHFR transcript variant X2 | XM_047421174.1:c.*232= | XM_047421174.1:c.*232A>T | XM_047421174.1:c.*232A>C |
| MTHFR transcript variant X7 | XM_047421180.1:c.*372= | XM_047421180.1:c.*372A>T | XM_047421180.1:c.*372A>C |
| MTHFR transcript variant X8 | XM_047421181.1:c.*372= | XM_047421181.1:c.*372A>T | XM_047421181.1:c.*372A>C |
| MTHFR transcript variant X6 | XM_047421179.1:c.*232= | XM_047421179.1:c.*232A>T | XM_047421179.1:c.*232A>C |
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#.
104 SubSNP,
22 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WI_SSAHASNP | ss6694418 | Feb 20, 2003 (111) |
| 2 | BCM_SSAHASNP | ss9821127 | Jul 11, 2003 (116) |
| 3 | SC_SNP | ss15391532 | Feb 27, 2004 (120) |
| 4 | CSHL-HAPMAP | ss16452425 | Feb 27, 2004 (120) |
| 5 | SSAHASNP | ss20519280 | Apr 05, 2004 (121) |
| 6 | PERLEGEN | ss23162564 | Sep 20, 2004 (123) |
| 7 | KRIBB_YJKIM | ss65838683 | Nov 30, 2006 (127) |
| 8 | EGP_SNPS | ss66859415 | Nov 30, 2006 (127) |
| 9 | EGP_SNPS | ss70457147 | May 17, 2007 (127) |
| 10 | CGM_KYOTO | ss76875032 | Dec 06, 2007 (129) |
| 11 | BCMHGSC_JDW | ss87223163 | Mar 23, 2008 (129) |
| 12 | HUMANGENOME_JCVI | ss97919655 | Feb 03, 2009 (130) |
| 13 | BGI | ss105121469 | Dec 01, 2009 (131) |
| 14 | 1000GENOMES | ss107994535 | Jan 22, 2009 (130) |
| 15 | 1000GENOMES | ss110061756 | Jan 24, 2009 (130) |
| 16 | ENSEMBL | ss131644284 | Dec 01, 2009 (131) |
| 17 | ENSEMBL | ss137797983 | Dec 01, 2009 (131) |
| 18 | GMI | ss154641443 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss160719089 | Dec 01, 2009 (131) |
| 20 | COMPLETE_GENOMICS | ss163078967 | Jul 04, 2010 (132) |
| 21 | COMPLETE_GENOMICS | ss163832327 | Jul 04, 2010 (132) |
| 22 | COMPLETE_GENOMICS | ss166100205 | Jul 04, 2010 (132) |
| 23 | BUSHMAN | ss198024734 | Jul 04, 2010 (132) |
| 24 | BCM-HGSC-SUB | ss205123462 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss218238407 | Jul 14, 2010 (132) |
| 26 | 1000GENOMES | ss230427610 | Jul 14, 2010 (132) |
| 27 | 1000GENOMES | ss238142807 | Jul 15, 2010 (132) |
| 28 | ILLUMINA | ss244301701 | Jul 04, 2010 (132) |
| 29 | BL | ss252918137 | May 09, 2011 (134) |
| 30 | GMI | ss275715258 | May 04, 2012 (137) |
| 31 | GMI | ss284001281 | Apr 25, 2013 (138) |
| 32 | PJP | ss290623941 | May 09, 2011 (134) |
| 33 | ILLUMINA | ss410765830 | Sep 17, 2011 (135) |
| 34 | ILLUMINA | ss482084844 | May 04, 2012 (137) |
| 35 | ILLUMINA | ss482087193 | Sep 08, 2015 (146) |
| 36 | ILLUMINA | ss483744899 | May 04, 2012 (137) |
| 37 | TISHKOFF | ss553801667 | Apr 25, 2013 (138) |
| 38 | SSMP | ss647577729 | Apr 25, 2013 (138) |
| 39 | ILLUMINA | ss782316001 | Sep 08, 2015 (146) |
| 40 | EVA-GONL | ss974860099 | Aug 21, 2014 (142) |
| 41 | JMKIDD_LAB | ss1067672493 | Aug 21, 2014 (142) |
| 42 | 1000GENOMES | ss1289700921 | Aug 21, 2014 (142) |
| 43 | DDI | ss1425713650 | Apr 01, 2015 (144) |
| 44 | EVA_DECODE | ss1584218236 | Apr 01, 2015 (144) |
| 45 | EVA_UK10K_ALSPAC | ss1599557435 | Apr 01, 2015 (144) |
| 46 | EVA_UK10K_TWINSUK | ss1642551468 | Apr 01, 2015 (144) |
| 47 | EVA_MGP | ss1710888332 | Apr 01, 2015 (144) |
| 48 | HAMMER_LAB | ss1793911286 | Sep 08, 2015 (146) |
| 49 | WEILL_CORNELL_DGM | ss1918059993 | Feb 12, 2016 (147) |
| 50 | ILLUMINA | ss1958241665 | Feb 12, 2016 (147) |
| 51 | GENOMED | ss1966685437 | Jul 19, 2016 (147) |
| 52 | JJLAB | ss2019543864 | Sep 14, 2016 (149) |
| 53 | USC_VALOUEV | ss2147541908 | Dec 20, 2016 (150) |
| 54 | HUMAN_LONGEVITY | ss2160086062 | Dec 20, 2016 (150) |
| 55 | SYSTEMSBIOZJU | ss2624288320 | Nov 08, 2017 (151) |
| 56 | GRF | ss2697438481 | Nov 08, 2017 (151) |
| 57 | SWEGEN | ss2986303380 | Nov 08, 2017 (151) |
| 58 | ILLUMINA | ss3021054721 | Nov 08, 2017 (151) |
| 59 | BIOINF_KMB_FNS_UNIBA | ss3023536199 | Nov 08, 2017 (151) |
| 60 | CSHL | ss3343319549 | Nov 08, 2017 (151) |
| 61 | ILLUMINA | ss3635983160 | Oct 11, 2018 (152) |
| 62 | OMUKHERJEE_ADBS | ss3646221371 | Oct 11, 2018 (152) |
| 63 | URBANLAB | ss3646600847 | Oct 11, 2018 (152) |
| 64 | ILLUMINA | ss3651378675 | Oct 11, 2018 (152) |
| 65 | EGCUT_WGS | ss3654404203 | Jul 12, 2019 (153) |
| 66 | EVA_DECODE | ss3686172648 | Jul 12, 2019 (153) |
| 67 | ILLUMINA | ss3724996771 | Jul 12, 2019 (153) |
| 68 | ACPOP | ss3726794150 | Jul 12, 2019 (153) |
| 69 | EVA | ss3745835013 | Jul 12, 2019 (153) |
| 70 | PAGE_CC | ss3770785788 | Jul 12, 2019 (153) |
| 71 | PACBIO | ss3783325567 | Jul 12, 2019 (153) |
| 72 | PACBIO | ss3788999801 | Jul 12, 2019 (153) |
| 73 | PACBIO | ss3793872543 | Jul 12, 2019 (153) |
| 74 | KHV_HUMAN_GENOMES | ss3798855361 | Jul 12, 2019 (153) |
| 75 | EVA | ss3825553516 | Apr 25, 2020 (154) |
| 76 | EVA | ss3826025651 | Apr 25, 2020 (154) |
| 77 | EVA | ss3836399861 | Apr 25, 2020 (154) |
| 78 | EVA | ss3841804024 | Apr 25, 2020 (154) |
| 79 | SGDP_PRJ | ss3848203139 | Apr 25, 2020 (154) |
| 80 | KRGDB | ss3893088499 | Apr 25, 2020 (154) |
| 81 | KOGIC | ss3943834872 | Apr 25, 2020 (154) |
| 82 | FSA-LAB | ss3983916079 | Apr 25, 2021 (155) |
| 83 | FSA-LAB | ss3983916080 | Apr 25, 2021 (155) |
| 84 | EVA | ss3984452188 | Apr 25, 2021 (155) |
| 85 | EVA | ss3986008491 | Apr 25, 2021 (155) |
| 86 | GNOMAD | ss3988404319 | Apr 25, 2021 (155) |
| 87 | TOPMED | ss4439374673 | Apr 25, 2021 (155) |
| 88 | TOMMO_GENOMICS | ss5142497592 | Apr 25, 2021 (155) |
| 89 | 1000G_HIGH_COVERAGE | ss5241193072 | Oct 12, 2022 (156) |
| 90 | EVA | ss5314593287 | Oct 12, 2022 (156) |
| 91 | EVA | ss5316780962 | Oct 12, 2022 (156) |
| 92 | HUGCELL_USP | ss5442395262 | Oct 12, 2022 (156) |
| 93 | EVA | ss5505767136 | Oct 12, 2022 (156) |
| 94 | 1000G_HIGH_COVERAGE | ss5512958717 | Oct 12, 2022 (156) |
| 95 | SANFORD_IMAGENETICS | ss5624196549 | Oct 12, 2022 (156) |
| 96 | SANFORD_IMAGENETICS | ss5624934371 | Oct 12, 2022 (156) |
| 97 | TOMMO_GENOMICS | ss5666807196 | Oct 12, 2022 (156) |
| 98 | EVA | ss5800045420 | Oct 12, 2022 (156) |
| 99 | YY_MCH | ss5800327098 | Oct 12, 2022 (156) |
| 100 | EVA | ss5831546315 | Oct 12, 2022 (156) |
| 101 | EVA | ss5848785570 | Oct 12, 2022 (156) |
| 102 | EVA | ss5907062703 | Oct 12, 2022 (156) |
| 103 | EVA | ss5936761290 | Oct 12, 2022 (156) |
| 104 | EVA | ss5979933658 | Oct 12, 2022 (156) |
| 105 | 1000Genomes | NC_000001.10 - 11850365 | Oct 11, 2018 (152) |
| 106 | 1000Genomes_30x | NC_000001.11 - 11790308 | Oct 12, 2022 (156) |
| 107 | The Avon Longitudinal Study of Parents and Children | NC_000001.10 - 11850365 | Oct 11, 2018 (152) |
| 108 | Genetic variation in the Estonian population | NC_000001.10 - 11850365 | Oct 11, 2018 (152) |
| 109 | gnomAD - Genomes | NC_000001.11 - 11790308 | Apr 25, 2021 (155) |
| 110 | Genome of the Netherlands Release 5 | NC_000001.10 - 11850365 | Apr 25, 2020 (154) |
| 111 | HapMap | NC_000001.11 - 11790308 | Apr 25, 2020 (154) |
| 112 | KOREAN population from KRGDB | NC_000001.10 - 11850365 | Apr 25, 2020 (154) |
| 113 | Korean Genome Project | NC_000001.11 - 11790308 | Apr 25, 2020 (154) |
| 114 | Medical Genome Project healthy controls from Spanish population | NC_000001.10 - 11850365 | Apr 25, 2020 (154) |
| 115 | Northern Sweden | NC_000001.10 - 11850365 | Jul 12, 2019 (153) |
| 116 | The PAGE Study | NC_000001.11 - 11790308 | Jul 12, 2019 (153) |
| 117 | CNV burdens in cranial meningiomas | NC_000001.10 - 11850365 | Apr 25, 2021 (155) |
| 118 | Qatari | NC_000001.10 - 11850365 | Apr 25, 2020 (154) |
| 119 | SGDP_PRJ | NC_000001.10 - 11850365 | Apr 25, 2020 (154) |
| 120 | Siberian | NC_000001.10 - 11850365 | Apr 25, 2020 (154) |
| 121 | 8.3KJPN | NC_000001.10 - 11850365 | Apr 25, 2021 (155) |
| 122 | 14KJPN | NC_000001.11 - 11790308 | Oct 12, 2022 (156) |
| 123 | TopMed | NC_000001.11 - 11790308 | Apr 25, 2021 (155) |
| 124 | UK 10K study - Twins | NC_000001.10 - 11850365 | Oct 11, 2018 (152) |
| 125 | A Vietnamese Genetic Variation Database | NC_000001.10 - 11850365 | Jul 12, 2019 (153) |
| 126 | ALFA | NC_000001.11 - 11790308 | Apr 25, 2021 (155) |
| 127 | ClinVar | RCV001523551.3 | Oct 12, 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 265893, ss3893088499 | NC_000001.10:11850364:T:A | NC_000001.11:11790307:T:A | (self) |
| 5774231274 | NC_000001.11:11790307:T:A | NC_000001.11:11790307:T:A | (self) |
| ss87223163, ss107994535, ss110061756, ss163078967, ss163832327, ss166100205, ss198024734, ss205123462, ss252918137, ss275715258, ss284001281, ss290623941, ss482084844, ss1584218236 | NC_000001.9:11772951:T:G | NC_000001.11:11790307:T:G | (self) |
| 377634, 196860, 142451, 83842, 265893, 5084, 79015, 1488, 101923, 220119, 58262, 466899, 196860, 41157, ss218238407, ss230427610, ss238142807, ss482087193, ss483744899, ss553801667, ss647577729, ss782316001, ss974860099, ss1067672493, ss1289700921, ss1425713650, ss1599557435, ss1642551468, ss1710888332, ss1793911286, ss1918059993, ss1958241665, ss1966685437, ss2019543864, ss2147541908, ss2624288320, ss2697438481, ss2986303380, ss3021054721, ss3343319549, ss3635983160, ss3646221371, ss3651378675, ss3654404203, ss3726794150, ss3745835013, ss3783325567, ss3788999801, ss3793872543, ss3825553516, ss3826025651, ss3836399861, ss3848203139, ss3893088499, ss3983916079, ss3983916080, ss3984452188, ss3986008491, ss5142497592, ss5314593287, ss5316780962, ss5505767136, ss5624196549, ss5624934371, ss5800045420, ss5831546315, ss5936761290, ss5979933658 | NC_000001.10:11850364:T:G | NC_000001.11:11790307:T:G | (self) |
| RCV001523551.3, 484652, 2627873, 14045, 212873, 7257, 644300, 2981008, 5774231274, ss2160086062, ss3023536199, ss3646600847, ss3686172648, ss3724996771, ss3770785788, ss3798855361, ss3841804024, ss3943834872, ss3988404319, ss4439374673, ss5241193072, ss5442395262, ss5512958717, ss5666807196, ss5800327098, ss5848785570, ss5907062703 | NC_000001.11:11790307:T:G | NC_000001.11:11790307:T:G | (self) |
| ss9821127 | NT_021937.15:2362298:T:G | NC_000001.11:11790307:T:G | (self) |
| ss15391532, ss16452425, ss20519280 | NT_021937.16:5977423:T:G | NC_000001.11:11790307:T:G | (self) |
| ss6694418, ss23162564, ss65838683, ss66859415, ss70457147, ss76875032, ss97919655, ss105121469, ss131644284, ss137797983, ss154641443, ss160719089, ss244301701, ss410765830 | NT_021937.19:7855096:T:G | NC_000001.11:11790307: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.
29
citations for rs4846049
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 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.) |
| 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 |
| 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 |
| 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 |
| 20962791 | Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants. | Cheng X et al. | 2011 | Journal of human genetics |
| 21448238 | Meta-analysis of genome-wide association for migraine in six population-based European cohorts. | Ligthart L et al. | 2011 | European journal of human genetics |
| 21515602 | Association of the 5-aminoimidazole-4-carboxamide ribonucleotide transformylase gene with response to methotrexate in juvenile idiopathic arthritis. | Hinks A et al. | 2011 | Annals of the rheumatic diseases |
| 22100073 | Blood pressure loci identified with a gene-centric array. | Johnson T et al. | 2011 | American journal of human genetics |
| 22647417 | The human MTHFR rs4846049 polymorphism increases coronary heart disease risk through modifying miRNA binding. | Wu C et al. | 2013 | Nutrition, metabolism, and cardiovascular diseases |
| 23227261 | Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients. | Spellicy CJ et al. | 2012 | PloS one |
| 24315498 | Synergistic association of DNA repair relevant gene polymorphisms with the risk of coronary artery disease in northeastern Han Chinese. | Yu X et al. | 2014 | Thrombosis research |
| 24391914 | Association of impulsivity and polymorphic microRNA-641 target sites in the SNAP-25 gene. | Németh N et al. | 2013 | PloS one |
| 24991086 | Novel insights into miRNA in lung and heart inflammatory diseases. | Kishore A et al. | 2014 | Mediators of inflammation |
| 25723397 | Association of blood lead levels with methylenetetrahydrofolate reductase polymorphisms among Chinese pregnant women in Wuhan city. | Shen W et al. | 2015 | PloS one |
| 25882505 | Women who deliver twins are more likely to smoke and have high frequencies of specific SNPs: Results from a sample of African-American women who delivered preterm, low birth weight babies. | Huang H et al. | 2015 | American journal of human biology |
| 26046315 | Genetic variants in 3'-UTRs of methylenetetrahydrofolate reductase (MTHFR) predict colorectal cancer susceptibility in Koreans. | Jeon YJ et al. | 2015 | Scientific reports |
| 26690224 | A Meta-Analysis of the Association between Polymorphisms in MicroRNAs and Risk of Ischemic Stroke. | Xiao Y et al. | 2015 | Genes |
| 27454313 | Association of miR-146a, miR-149, miR-196a2, and miR-499 Polymorphisms with Ossification of the Posterior Longitudinal Ligament of the Cervical Spine. | Lim JJ et al. | 2016 | PloS one |
| 28657672 | Genetic variants in 3'-UTRs of MTHFR in the pregnancies complicated with preeclampsia and bioinformatics analysis. | Mohammadpour-Gharehbagh A et al. | 2018 | Journal of cellular biochemistry |
| 28722783 | The association of the placental MTHFR 3'-UTR polymorphisms, promoter methylation, and MTHFR expression with preeclampsia. | Mohammadpour-Gharehbagh A et al. | 2018 | Journal of cellular biochemistry |
| 28963520 | Interplay between 3'-UTR polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk of ischemic stroke. | Kim JO et al. | 2017 | Scientific reports |
| 29379315 | The rs4846049 polymorphism in the 3'UTR region of the MTHFR gene increases the migraine susceptibility in an Iranian population. | Salehi M et al. | 2018 | Journal of pain research |
| 31469255 | A genome-wide association and replication study of blood pressure in Ugandan early adolescents. | Lule SA et al. | 2019 | Molecular genetics & genomic medicine |
| 31637880 | MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis. | Gholami M et al. | 2019 | Cancer medicine |
| 31737664 | Rs4846049 Polymorphism at the 3'-UTR of MTHFR Gene: Association with Susceptibility to Childhood Acute Lymphoblastic Leukemia. | Li X et al. | 2019 | BioMed research international |
| 32117640 | Single nucleotide polymorphism of MTHFR rs1801133 associated with elevated Hcy levels affects susceptibility to cerebral small vessel disease. | Yuan H et al. | 2020 | PeerJ |
| 32791502 | Genetic Variants in One-Carbon Metabolism Pathway Predict Survival Outcomes of Early-Stage Non-Small Cell Lung Cancer. | Do SK et al. | 2020 | Oncology |
| 33223666 | Interaction Between Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms and Environment with Susceptibility to Ischemic Stroke in Chinese Population. | Zheng XZ et al. | 2020 | Annals of Indian Academy of Neurology |
| 34027569 | Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women. | Kwon BN et al. | 2021 | Genes & genomics |
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.