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.
rs1805087
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:236885200 (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
- A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.191400 (72831/380518, ALFA)G=0.209309 (55402/264690, TOPMED)G=0.203043 (50989/251124, GnomAD_exome) (+ 28 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MTR : Missense Variant
- Publications
- 164 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 396688 | A=0.808141 | G=0.191859 |
European | Sub | 335758 | A=0.811605 | G=0.188395 |
African | Sub | 17186 | A=0.73548 | G=0.26452 |
African Others | Sub | 606 | A=0.706 | G=0.294 |
African American | Sub | 16580 | A=0.73655 | G=0.26345 |
Asian | Sub | 7010 | A=0.8802 | G=0.1198 |
East Asian | Sub | 5012 | A=0.8919 | G=0.1081 |
Other Asian | Sub | 1998 | A=0.8509 | G=0.1491 |
Latin American 1 | Sub | 1572 | A=0.8015 | G=0.1985 |
Latin American 2 | Sub | 5324 | A=0.8135 | G=0.1865 |
South Asian | Sub | 5238 | A=0.6972 | G=0.3028 |
Other | Sub | 24600 | A=0.81398 | G=0.18602 |
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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
Allele Frequency Aggregator | Total | Global | 380518 | A=0.808600 | G=0.191400 |
Allele Frequency Aggregator | European | Sub | 325792 | A=0.811220 | G=0.188780 |
Allele Frequency Aggregator | Other | Sub | 23186 | A=0.81476 | G=0.18524 |
Allele Frequency Aggregator | African | Sub | 12396 | A=0.73362 | G=0.26638 |
Allele Frequency Aggregator | Asian | Sub | 7010 | A=0.8802 | G=0.1198 |
Allele Frequency Aggregator | Latin American 2 | Sub | 5324 | A=0.8135 | G=0.1865 |
Allele Frequency Aggregator | South Asian | Sub | 5238 | A=0.6972 | G=0.3028 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1572 | A=0.8015 | G=0.1985 |
TopMed | Global | Study-wide | 264690 | A=0.790691 | G=0.209309 |
gnomAD - Exomes | Global | Study-wide | 251124 | A=0.796957 | G=0.203043 |
gnomAD - Exomes | European | Sub | 135116 | A=0.808668 | G=0.191332 |
gnomAD - Exomes | Asian | Sub | 48990 | A=0.76407 | G=0.23593 |
gnomAD - Exomes | American | Sub | 34572 | A=0.81580 | G=0.18420 |
gnomAD - Exomes | African | Sub | 16242 | A=0.73439 | G=0.26561 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | A=0.83204 | G=0.16796 |
gnomAD - Exomes | Other | Sub | 6124 | A=0.8034 | G=0.1966 |
gnomAD - Genomes | Global | Study-wide | 140084 | A=0.788634 | G=0.211366 |
gnomAD - Genomes | European | Sub | 75880 | A=0.80550 | G=0.19450 |
gnomAD - Genomes | African | Sub | 41952 | A=0.73803 | G=0.26197 |
gnomAD - Genomes | American | Sub | 13646 | A=0.81760 | G=0.18240 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.8248 | G=0.1752 |
gnomAD - Genomes | East Asian | Sub | 3130 | A=0.8872 | G=0.1128 |
gnomAD - Genomes | Other | Sub | 2154 | A=0.7976 | G=0.2024 |
ExAC | Global | Study-wide | 121046 | A=0.790922 | G=0.209078 |
ExAC | Europe | Sub | 73102 | A=0.80831 | G=0.19169 |
ExAC | Asian | Sub | 25116 | A=0.75366 | G=0.24634 |
ExAC | American | Sub | 11564 | A=0.81356 | G=0.18644 |
ExAC | African | Sub | 10358 | A=0.73344 | G=0.26656 |
ExAC | Other | Sub | 906 | A=0.789 | G=0.211 |
The PAGE Study | Global | Study-wide | 78700 | A=0.78233 | G=0.21767 |
The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.73459 | G=0.26541 |
The PAGE Study | Mexican | Sub | 10810 | A=0.81397 | G=0.18603 |
The PAGE Study | Asian | Sub | 8318 | A=0.8181 | G=0.1819 |
The PAGE Study | PuertoRican | Sub | 7918 | A=0.7941 | G=0.2059 |
The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.8858 | G=0.1142 |
The PAGE Study | Cuban | Sub | 4230 | A=0.8300 | G=0.1700 |
The PAGE Study | Dominican | Sub | 3828 | A=0.7941 | G=0.2059 |
The PAGE Study | CentralAmerican | Sub | 2450 | A=0.8090 | G=0.1910 |
The PAGE Study | SouthAmerican | Sub | 1980 | A=0.8268 | G=0.1732 |
The PAGE Study | NativeAmerican | Sub | 1260 | A=0.7817 | G=0.2183 |
The PAGE Study | SouthAsian | Sub | 856 | A=0.724 | G=0.276 |
14KJPN | JAPANESE | Study-wide | 28256 | A=0.80985 | G=0.19015 |
8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.80835 | G=0.19165 |
GO Exome Sequencing Project | Global | Study-wide | 13006 | A=0.77964 | G=0.22036 |
GO Exome Sequencing Project | European American | Sub | 8600 | A=0.8021 | G=0.1979 |
GO Exome Sequencing Project | African American | Sub | 4406 | A=0.7358 | G=0.2642 |
1000Genomes_30x | Global | Study-wide | 6404 | A=0.7784 | G=0.2216 |
1000Genomes_30x | African | Sub | 1786 | A=0.7184 | G=0.2816 |
1000Genomes_30x | Europe | Sub | 1266 | A=0.8215 | G=0.1785 |
1000Genomes_30x | South Asian | Sub | 1202 | A=0.6805 | G=0.3195 |
1000Genomes_30x | East Asian | Sub | 1170 | A=0.8957 | G=0.1043 |
1000Genomes_30x | American | Sub | 980 | A=0.812 | G=0.188 |
1000Genomes | Global | Study-wide | 5008 | A=0.7817 | G=0.2183 |
1000Genomes | African | Sub | 1322 | A=0.7156 | G=0.2844 |
1000Genomes | East Asian | Sub | 1008 | A=0.8948 | G=0.1052 |
1000Genomes | Europe | Sub | 1006 | A=0.8270 | G=0.1730 |
1000Genomes | South Asian | Sub | 978 | A=0.679 | G=0.321 |
1000Genomes | American | Sub | 694 | A=0.823 | G=0.177 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.7955 | G=0.2045 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.8007 | G=0.1993 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.7972 | G=0.2028 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.8659 | G=0.1341 |
HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | A=0.7802 | G=0.2198 |
HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | A=0.857 | G=0.143 |
HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | A=0.717 | G=0.283 |
HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | A=0.829 | G=0.171 |
HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | A=0.822 | G=0.178 |
HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | A=0.802 | G=0.198 |
HGDP-CEPH-db Supplement 1 | America | Sub | 216 | A=0.741 | G=0.259 |
HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | A=0.26 | G=0.74 |
Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.8783 | G=0.1217 |
HapMap | Global | Study-wide | 1412 | A=0.7266 | G=0.2734 |
HapMap | African | Sub | 684 | A=0.665 | G=0.335 |
HapMap | American | Sub | 490 | A=0.767 | G=0.233 |
HapMap | Asian | Sub | 238 | A=0.819 | G=0.181 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1130 | A=0.7257 | G=0.2743 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 622 | A=0.707 | G=0.293 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=0.778 | G=0.222 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | A=0.811 | G=0.189 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.731 | G=0.269 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | A=0.62 | G=0.38 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.81 | G=0.19 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.798 | G=0.202 |
Chileans | Chilean | Study-wide | 626 | A=0.839 | G=0.161 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 612 | A=0.902 | G=0.098 |
Northern Sweden | ACPOP | Study-wide | 600 | A=0.747 | G=0.253 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.818 | G=0.182 |
FINRISK | Finnish from FINRISK project | Study-wide | 304 | A=0.796 | G=0.204 |
SGDP_PRJ | Global | Study-wide | 230 | A=0.396 | G=0.604 |
Qatari | Global | Study-wide | 216 | A=0.773 | G=0.227 |
PharmGKB Aggregated | Global | Study-wide | 160 | A=0.875 | G=0.125 |
PharmGKB Aggregated | PA140959355 | Sub | 160 | A=0.875 | G=0.125 |
The Danish reference pan genome | Danish | Study-wide | 40 | A=0.80 | G=0.20 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 34 | A=0.94 | G=0.06 |
Siberian | Global | Study-wide | 16 | A=0.44 | G=0.56 |
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Sequence name | Change |
---|---|
GRCh38.p14 chr 1 | NC_000001.11:g.236885200A>G |
GRCh37.p13 chr 1 | NC_000001.10:g.237048500A>G |
MTR RefSeqGene | NG_008959.1:g.94920A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
MTR transcript variant 2 | NM_001291939.1:c.2603A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform 2 | NP_001278868.1:p.Asp868Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant 3 | NM_001291940.2:c.1535A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform 3 | NP_001278869.1:p.Asp512Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant 1 | NM_000254.3:c.2756A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform 1 | NP_000245.2:p.Asp919Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X1 | XM_011544194.4:c.2924A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X1 | XP_011542496.1:p.Asp975Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X2 | XM_017001329.3:c.2771A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X2 | XP_016856818.1:p.Asp924Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X3 | XM_005273141.6:c.2753A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X3 | XP_005273198.1:p.Asp918Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X4 | XM_017001330.3:c.2735A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X4 | XP_016856819.1:p.Asp912Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X5 | XM_047421182.1:c.2600A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X5 | XP_047277138.1:p.Asp867Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X6 | XM_047421183.1:c.2582A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X6 | XP_047277139.1:p.Asp861Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X7 | XM_047421184.1:c.2567A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X7 | XP_047277140.1:p.Asp856Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X7 | XM_047421185.1:c.2564A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X7 | XP_047277141.1:p.Asp855Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X8 | XM_047421186.1:c.2414A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X8 | XP_047277142.1:p.Asp805Gly | D (Asp) > G (Gly) | Missense Variant |
MTR transcript variant X9 | XM_047421187.1:c.1820A>G | D [GAC] > G [GGC] | Coding Sequence Variant |
methionine synthase isoform X9 | XP_047277143.1:p.Asp607Gly | D (Asp) > G (Gly) | Missense Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000015355.3 | Neural tube defects, folate-sensitive, susceptibility to | Risk-Factor |
RCV000126868.5 | not specified | Benign |
RCV000144923.2 | Gastrointestinal stromal tumor | Uncertain-Significance |
RCV000398009.4 | Disorders of Intracellular Cobalamin Metabolism | Benign |
RCV001519615.5 | Methylcobalamin deficiency type cblG | Benign |
RCV001812069.3 | not provided | Benign |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | A= | G |
---|---|---|
GRCh38.p14 chr 1 | NC_000001.11:g.236885200= | NC_000001.11:g.236885200A>G |
GRCh37.p13 chr 1 | NC_000001.10:g.237048500= | NC_000001.10:g.237048500A>G |
MTR RefSeqGene | NG_008959.1:g.94920= | NG_008959.1:g.94920A>G |
MTR transcript variant 1 | NM_000254.3:c.2756= | NM_000254.3:c.2756A>G |
MTR transcript variant 1 | NM_000254.2:c.2756= | NM_000254.2:c.2756A>G |
MTR transcript variant 3 | NM_001291940.2:c.1535= | NM_001291940.2:c.1535A>G |
MTR transcript variant 3 | NM_001291940.1:c.1535= | NM_001291940.1:c.1535A>G |
MTR transcript variant 2 | NM_001291939.1:c.2603= | NM_001291939.1:c.2603A>G |
MTR transcript variant X3 | XM_005273141.6:c.2753= | XM_005273141.6:c.2753A>G |
MTR transcript variant X3 | XM_005273141.5:c.2753= | XM_005273141.5:c.2753A>G |
MTR transcript variant X3 | XM_005273141.4:c.2753= | XM_005273141.4:c.2753A>G |
MTR transcript variant X1 | XM_005273141.3:c.2753= | XM_005273141.3:c.2753A>G |
MTR transcript variant X2 | XM_005273141.2:c.2753= | XM_005273141.2:c.2753A>G |
MTR transcript variant X2 | XM_005273141.1:c.2753= | XM_005273141.1:c.2753A>G |
MTR transcript variant X1 | XM_011544194.4:c.2924= | XM_011544194.4:c.2924A>G |
MTR transcript variant X1 | XM_011544194.3:c.2924= | XM_011544194.3:c.2924A>G |
MTR transcript variant X1 | XM_011544194.2:c.2924= | XM_011544194.2:c.2924A>G |
MTR transcript variant X5 | XM_011544194.1:c.2924= | XM_011544194.1:c.2924A>G |
MTR transcript variant X2 | XM_017001329.3:c.2771= | XM_017001329.3:c.2771A>G |
MTR transcript variant X2 | XM_017001329.2:c.2771= | XM_017001329.2:c.2771A>G |
MTR transcript variant X2 | XM_017001329.1:c.2771= | XM_017001329.1:c.2771A>G |
MTR transcript variant X4 | XM_017001330.3:c.2735= | XM_017001330.3:c.2735A>G |
MTR transcript variant X4 | XM_017001330.2:c.2735= | XM_017001330.2:c.2735A>G |
MTR transcript variant X4 | XM_017001330.1:c.2735= | XM_017001330.1:c.2735A>G |
MTR transcript variant X5 | XM_047421182.1:c.2600= | XM_047421182.1:c.2600A>G |
MTR transcript variant X7 | XM_047421184.1:c.2567= | XM_047421184.1:c.2567A>G |
MTR transcript variant X7 | XM_047421185.1:c.2564= | XM_047421185.1:c.2564A>G |
MTR transcript variant 4 | NM_001410942.1:c.2567= | NM_001410942.1:c.2567A>G |
MTR transcript variant X8 | XM_047421186.1:c.2414= | XM_047421186.1:c.2414A>G |
MTR transcript variant X6 | XM_047421183.1:c.2582= | XM_047421183.1:c.2582A>G |
MTR transcript variant X9 | XM_047421187.1:c.1820= | XM_047421187.1:c.1820A>G |
methionine synthase isoform 1 | NP_000245.2:p.Asp919= | NP_000245.2:p.Asp919Gly |
methionine synthase isoform 3 | NP_001278869.1:p.Asp512= | NP_001278869.1:p.Asp512Gly |
methionine synthase isoform 2 | NP_001278868.1:p.Asp868= | NP_001278868.1:p.Asp868Gly |
methionine synthase isoform X3 | XP_005273198.1:p.Asp918= | XP_005273198.1:p.Asp918Gly |
methionine synthase isoform X1 | XP_011542496.1:p.Asp975= | XP_011542496.1:p.Asp975Gly |
methionine synthase isoform X2 | XP_016856818.1:p.Asp924= | XP_016856818.1:p.Asp924Gly |
methionine synthase isoform X4 | XP_016856819.1:p.Asp912= | XP_016856819.1:p.Asp912Gly |
methionine synthase isoform X5 | XP_047277138.1:p.Asp867= | XP_047277138.1:p.Asp867Gly |
methionine synthase isoform X7 | XP_047277140.1:p.Asp856= | XP_047277140.1:p.Asp856Gly |
methionine synthase isoform X7 | XP_047277141.1:p.Asp855= | XP_047277141.1:p.Asp855Gly |
methionine synthase isoform X8 | XP_047277142.1:p.Asp805= | XP_047277142.1:p.Asp805Gly |
methionine synthase isoform X6 | XP_047277139.1:p.Asp861= | XP_047277139.1:p.Asp861Gly |
methionine synthase isoform X9 | XP_047277143.1:p.Asp607= | XP_047277143.1:p.Asp607Gly |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | TSC-CSHL | ss2961149 | Apr 12, 2001 (94) |
2 | YUSUKE | ss3211692 | Sep 28, 2001 (100) |
3 | SC_JCM | ss5772546 | Feb 20, 2003 (111) |
4 | WUGSC_SSAHASNP | ss14457700 | Dec 05, 2003 (119) |
5 | CSHL-HAPMAP | ss16445715 | Feb 27, 2004 (120) |
6 | CSHL-HAPMAP | ss19141926 | Feb 27, 2004 (120) |
7 | PERLEGEN | ss24276502 | Sep 20, 2004 (123) |
8 | ABI | ss43992346 | Mar 13, 2006 (126) |
9 | SNP500CANCER | ss48295814 | Mar 13, 2006 (126) |
10 | AFFY | ss65983298 | Nov 30, 2006 (127) |
11 | AFFY | ss66104884 | Nov 30, 2006 (127) |
12 | ILLUMINA | ss66609132 | Nov 30, 2006 (127) |
13 | ILLUMINA | ss67197140 | Nov 30, 2006 (127) |
14 | ILLUMINA | ss67586254 | Nov 30, 2006 (127) |
15 | PERLEGEN | ss68797693 | May 17, 2007 (127) |
16 | ILLUMINA | ss70675351 | May 26, 2008 (130) |
17 | ILLUMINA | ss71238373 | May 17, 2007 (127) |
18 | ILLUMINA | ss75479819 | Dec 07, 2007 (129) |
19 | AFFY | ss76077368 | Dec 08, 2007 (130) |
20 | ILLUMINA | ss79094325 | Dec 15, 2007 (130) |
21 | KRIBB_YJKIM | ss83877873 | Dec 15, 2007 (130) |
22 | PHARMGKB_CREATE | ss84173114 | Dec 15, 2007 (130) |
23 | CORNELL | ss86238155 | Mar 23, 2008 (129) |
24 | 1000GENOMES | ss109063117 | Jan 23, 2009 (130) |
25 | ILLUMINA | ss121814733 | Dec 01, 2009 (131) |
26 | ILLUMINA | ss153737211 | Dec 01, 2009 (131) |
27 | ILLUMINA | ss159329896 | Dec 01, 2009 (131) |
28 | SEATTLESEQ | ss159700995 | Dec 01, 2009 (131) |
29 | ILLUMINA | ss160463268 | Dec 01, 2009 (131) |
30 | ENSEMBL | ss161232462 | Dec 01, 2009 (131) |
31 | COMPLETE_GENOMICS | ss165918430 | Jul 04, 2010 (132) |
32 | ILLUMINA | ss170816095 | Jul 04, 2010 (132) |
33 | AFFY | ss172421676 | Jul 04, 2010 (132) |
34 | ILLUMINA | ss172926471 | Jul 04, 2010 (132) |
35 | BUSHMAN | ss199793947 | Jul 04, 2010 (132) |
36 | BCM-HGSC-SUB | ss205113092 | Jul 04, 2010 (132) |
37 | 1000GENOMES | ss218959600 | Jul 14, 2010 (132) |
38 | 1000GENOMES | ss230960721 | Jul 14, 2010 (132) |
39 | 1000GENOMES | ss238563536 | Jul 15, 2010 (132) |
40 | ILLUMINA | ss244285183 | Jul 04, 2010 (132) |
41 | GMI | ss276275526 | May 04, 2012 (137) |
42 | NHLBI-ESP | ss342038679 | May 09, 2011 (134) |
43 | ILLUMINA | ss480301698 | May 04, 2012 (137) |
44 | ILLUMINA | ss480312788 | May 04, 2012 (137) |
45 | ILLUMINA | ss481068862 | Sep 08, 2015 (146) |
46 | ILLUMINA | ss484948646 | May 04, 2012 (137) |
47 | 1000GENOMES | ss489798939 | May 04, 2012 (137) |
48 | EXOME_CHIP | ss491313133 | May 04, 2012 (137) |
49 | CLINSEQ_SNP | ss491618319 | May 04, 2012 (137) |
50 | ILLUMINA | ss536992665 | Sep 08, 2015 (146) |
51 | TISHKOFF | ss555231387 | Apr 25, 2013 (138) |
52 | SSMP | ss648805201 | Apr 25, 2013 (138) |
53 | ILLUMINA | ss778841613 | Sep 08, 2015 (146) |
54 | ILLUMINA | ss780764499 | Aug 21, 2014 (142) |
55 | ILLUMINA | ss782920630 | Sep 08, 2015 (146) |
56 | ILLUMINA | ss783443752 | Aug 21, 2014 (142) |
57 | ILLUMINA | ss783883638 | Sep 08, 2015 (146) |
58 | ILLUMINA | ss825424843 | Apr 01, 2015 (144) |
59 | ILLUMINA | ss832175759 | Sep 08, 2015 (146) |
60 | ILLUMINA | ss832841905 | Jul 12, 2019 (153) |
61 | ILLUMINA | ss834302171 | Sep 08, 2015 (146) |
62 | JMKIDD_LAB | ss974440547 | Aug 21, 2014 (142) |
63 | EVA-GONL | ss976295914 | Aug 21, 2014 (142) |
64 | JMKIDD_LAB | ss1067433787 | Aug 21, 2014 (142) |
65 | JMKIDD_LAB | ss1068715984 | Aug 21, 2014 (142) |
66 | 1000GENOMES | ss1295214152 | Aug 21, 2014 (142) |
67 | HAMMER_LAB | ss1397276854 | Sep 08, 2015 (146) |
68 | DDI | ss1426155743 | Apr 01, 2015 (144) |
69 | CLINVAR | ss1457618440 | Nov 23, 2014 (142) |
70 | EVA_GENOME_DK | ss1574776713 | Apr 01, 2015 (144) |
71 | EVA_FINRISK | ss1584016205 | Apr 01, 2015 (144) |
72 | EVA_DECODE | ss1585697807 | Apr 01, 2015 (144) |
73 | EVA_UK10K_ALSPAC | ss1602442378 | Apr 01, 2015 (144) |
74 | EVA_UK10K_TWINSUK | ss1645436411 | Apr 01, 2015 (144) |
75 | EVA_EXAC | ss1686130510 | Apr 01, 2015 (144) |
76 | EVA_MGP | ss1710949209 | Apr 01, 2015 (144) |
77 | EVA_SVP | ss1712416975 | Apr 01, 2015 (144) |
78 | ILLUMINA | ss1751907266 | Sep 08, 2015 (146) |
79 | ILLUMINA | ss1751907267 | Sep 08, 2015 (146) |
80 | ILLUMINA | ss1917744480 | Feb 12, 2016 (147) |
81 | WEILL_CORNELL_DGM | ss1919517391 | Feb 12, 2016 (147) |
82 | ILLUMINA | ss1946027885 | Feb 12, 2016 (147) |
83 | ILLUMINA | ss1946027886 | Feb 12, 2016 (147) |
84 | ILLUMINA | ss1958370938 | Feb 12, 2016 (147) |
85 | ILLUMINA | ss1958370939 | Feb 12, 2016 (147) |
86 | JJLAB | ss2020285296 | Sep 14, 2016 (149) |
87 | ILLUMINA | ss2094786983 | Dec 20, 2016 (150) |
88 | ILLUMINA | ss2095003157 | Dec 20, 2016 (150) |
89 | USC_VALOUEV | ss2148322470 | Nov 08, 2017 (151) |
90 | HUMAN_LONGEVITY | ss2171247443 | Dec 20, 2016 (150) |
91 | SYSTEMSBIOZJU | ss2624655720 | Nov 08, 2017 (151) |
92 | ILLUMINA | ss2632648299 | Nov 08, 2017 (151) |
93 | ILLUMINA | ss2635008747 | Nov 08, 2017 (151) |
94 | GRF | ss2698324981 | Nov 08, 2017 (151) |
95 | ILLUMINA | ss2710698101 | Nov 08, 2017 (151) |
96 | GNOMAD | ss2732391632 | Nov 08, 2017 (151) |
97 | GNOMAD | ss2746597661 | Nov 08, 2017 (151) |
98 | GNOMAD | ss2767807815 | Nov 08, 2017 (151) |
99 | AFFY | ss2984899001 | Nov 08, 2017 (151) |
100 | AFFY | ss2985542765 | Nov 08, 2017 (151) |
101 | SWEGEN | ss2988685207 | Nov 08, 2017 (151) |
102 | ILLUMINA | ss3021195275 | Nov 08, 2017 (151) |
103 | ILLUMINA | ss3021195276 | Nov 08, 2017 (151) |
104 | BIOINF_KMB_FNS_UNIBA | ss3023904240 | Nov 08, 2017 (151) |
105 | CSHL | ss3343979947 | Nov 08, 2017 (151) |
106 | ILLUMINA | ss3625569784 | Oct 11, 2018 (152) |
107 | ILLUMINA | ss3626342511 | Oct 11, 2018 (152) |
108 | ILLUMINA | ss3626342512 | Oct 11, 2018 (152) |
109 | ILLUMINA | ss3630677205 | Oct 11, 2018 (152) |
110 | ILLUMINA | ss3632930953 | Oct 11, 2018 (152) |
111 | ILLUMINA | ss3633627269 | Oct 11, 2018 (152) |
112 | ILLUMINA | ss3634380713 | Oct 11, 2018 (152) |
113 | ILLUMINA | ss3634380714 | Oct 11, 2018 (152) |
114 | ILLUMINA | ss3635320244 | Oct 11, 2018 (152) |
115 | ILLUMINA | ss3636059658 | Oct 11, 2018 (152) |
116 | ILLUMINA | ss3637070798 | Oct 11, 2018 (152) |
117 | ILLUMINA | ss3637822783 | Oct 11, 2018 (152) |
118 | ILLUMINA | ss3638926432 | Oct 11, 2018 (152) |
119 | ILLUMINA | ss3639462288 | Oct 11, 2018 (152) |
120 | ILLUMINA | ss3640088066 | Oct 11, 2018 (152) |
121 | ILLUMINA | ss3640088067 | Oct 11, 2018 (152) |
122 | ILLUMINA | ss3642828375 | Oct 11, 2018 (152) |
123 | ILLUMINA | ss3644523888 | Oct 11, 2018 (152) |
124 | ILLUMINA | ss3644523889 | Oct 11, 2018 (152) |
125 | OMUKHERJEE_ADBS | ss3646255913 | Oct 11, 2018 (152) |
126 | ILLUMINA | ss3651541205 | Oct 11, 2018 (152) |
127 | ILLUMINA | ss3651541206 | Oct 11, 2018 (152) |
128 | ILLUMINA | ss3653669222 | Oct 11, 2018 (152) |
129 | EGCUT_WGS | ss3656644059 | Jul 12, 2019 (153) |
130 | EVA_DECODE | ss3688911199 | Jul 12, 2019 (153) |
131 | ILLUMINA | ss3725119142 | Jul 12, 2019 (153) |
132 | ACPOP | ss3727988133 | Jul 12, 2019 (153) |
133 | ILLUMINA | ss3744063048 | Jul 12, 2019 (153) |
134 | ILLUMINA | ss3744362342 | Jul 12, 2019 (153) |
135 | ILLUMINA | ss3744681620 | Jul 12, 2019 (153) |
136 | ILLUMINA | ss3744681621 | Jul 12, 2019 (153) |
137 | EVA | ss3747514411 | Jul 12, 2019 (153) |
138 | PAGE_CC | ss3770882706 | Jul 12, 2019 (153) |
139 | ILLUMINA | ss3772182394 | Jul 12, 2019 (153) |
140 | ILLUMINA | ss3772182395 | Jul 12, 2019 (153) |
141 | KHV_HUMAN_GENOMES | ss3800516770 | Jul 12, 2019 (153) |
142 | EVA | ss3823731981 | Apr 25, 2020 (154) |
143 | EVA | ss3825591919 | Apr 25, 2020 (154) |
144 | EVA | ss3826719865 | Apr 25, 2020 (154) |
145 | HGDP | ss3847368344 | Apr 25, 2020 (154) |
146 | SGDP_PRJ | ss3851194313 | Apr 25, 2020 (154) |
147 | KRGDB | ss3896551082 | Apr 25, 2020 (154) |
148 | KOGIC | ss3946786655 | Apr 25, 2020 (154) |
149 | FSA-LAB | ss3983968551 | Apr 25, 2021 (155) |
150 | FSA-LAB | ss3983968552 | Apr 25, 2021 (155) |
151 | EVA | ss3984861501 | Apr 25, 2021 (155) |
152 | EVA | ss3986165572 | Apr 25, 2021 (155) |
153 | EVA | ss4016970238 | Apr 25, 2021 (155) |
154 | TOPMED | ss4488469246 | Apr 25, 2021 (155) |
155 | TOMMO_GENOMICS | ss5149080787 | Apr 25, 2021 (155) |
156 | EVA | ss5236880519 | Apr 25, 2021 (155) |
157 | EVA | ss5237167235 | Apr 25, 2021 (155) |
158 | EVA | ss5237284600 | Apr 25, 2021 (155) |
159 | EVA | ss5237634801 | Oct 17, 2022 (156) |
160 | 1000G_HIGH_COVERAGE | ss5246290769 | Oct 17, 2022 (156) |
161 | TRAN_CS_UWATERLOO | ss5314399896 | Oct 17, 2022 (156) |
162 | EVA | ss5314694233 | Oct 17, 2022 (156) |
163 | EVA | ss5325689969 | Oct 17, 2022 (156) |
164 | HUGCELL_USP | ss5446678748 | Oct 17, 2022 (156) |
165 | EVA | ss5506239031 | Oct 17, 2022 (156) |
166 | 1000G_HIGH_COVERAGE | ss5520630684 | Oct 17, 2022 (156) |
167 | EVA | ss5624004920 | Oct 17, 2022 (156) |
168 | SANFORD_IMAGENETICS | ss5624234093 | Oct 17, 2022 (156) |
169 | SANFORD_IMAGENETICS | ss5627728195 | Oct 17, 2022 (156) |
170 | TOMMO_GENOMICS | ss5677030633 | Oct 17, 2022 (156) |
171 | EVA | ss5799516328 | Oct 17, 2022 (156) |
172 | EVA | ss5800091401 | Oct 17, 2022 (156) |
173 | YY_MCH | ss5801766673 | Oct 17, 2022 (156) |
174 | EVA | ss5833463520 | Oct 17, 2022 (156) |
175 | EVA | ss5847177450 | Oct 17, 2022 (156) |
176 | EVA | ss5847579938 | Oct 17, 2022 (156) |
177 | EVA | ss5848289822 | Oct 17, 2022 (156) |
178 | EVA | ss5849350533 | Oct 17, 2022 (156) |
179 | EVA | ss5912543399 | Oct 17, 2022 (156) |
180 | EVA | ss5939579364 | Oct 17, 2022 (156) |
181 | EVA | ss5979309989 | Oct 17, 2022 (156) |
182 | EVA | ss5980024709 | Oct 17, 2022 (156) |
183 | EVA | ss5981325837 | Oct 17, 2022 (156) |
184 | 1000Genomes | NC_000001.10 - 237048500 | Oct 11, 2018 (152) |
185 | 1000Genomes_30x | NC_000001.11 - 236885200 | Oct 17, 2022 (156) |
186 | The Avon Longitudinal Study of Parents and Children | NC_000001.10 - 237048500 | Oct 11, 2018 (152) |
187 | Chileans | NC_000001.10 - 237048500 | Apr 25, 2020 (154) |
188 | Genome-wide autozygosity in Daghestan | NC_000001.9 - 235115123 | Apr 25, 2020 (154) |
189 | Genetic variation in the Estonian population | NC_000001.10 - 237048500 | Oct 11, 2018 (152) |
190 | ExAC | NC_000001.10 - 237048500 | Oct 11, 2018 (152) |
191 | FINRISK | NC_000001.10 - 237048500 | Apr 25, 2020 (154) |
192 | The Danish reference pan genome | NC_000001.10 - 237048500 | Apr 25, 2020 (154) |
193 | gnomAD - Genomes | NC_000001.11 - 236885200 | Apr 25, 2021 (155) |
194 | gnomAD - Exomes | NC_000001.10 - 237048500 | Jul 12, 2019 (153) |
195 | GO Exome Sequencing Project | NC_000001.10 - 237048500 | Oct 11, 2018 (152) |
196 | Genome of the Netherlands Release 5 | NC_000001.10 - 237048500 | Apr 25, 2020 (154) |
197 | HGDP-CEPH-db Supplement 1 | NC_000001.9 - 235115123 | Apr 25, 2020 (154) |
198 | HapMap | NC_000001.11 - 236885200 | Apr 25, 2020 (154) |
199 | KOREAN population from KRGDB | NC_000001.10 - 237048500 | Apr 25, 2020 (154) |
200 | Korean Genome Project | NC_000001.11 - 236885200 | Apr 25, 2020 (154) |
201 | Medical Genome Project healthy controls from Spanish population | NC_000001.10 - 237048500 | Apr 25, 2020 (154) |
202 | Northern Sweden | NC_000001.10 - 237048500 | Jul 12, 2019 (153) |
203 | The PAGE Study | NC_000001.11 - 236885200 | Jul 12, 2019 (153) |
204 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000001.10 - 237048500 | Apr 25, 2021 (155) |
205 | PharmGKB Aggregated | NC_000001.11 - 236885200 | Apr 25, 2020 (154) |
206 | Qatari | NC_000001.10 - 237048500 | Apr 25, 2020 (154) |
207 | SGDP_PRJ | NC_000001.10 - 237048500 | Apr 25, 2020 (154) |
208 | Siberian | NC_000001.10 - 237048500 | Apr 25, 2020 (154) |
209 | 8.3KJPN | NC_000001.10 - 237048500 | Apr 25, 2021 (155) |
210 | 14KJPN | NC_000001.11 - 236885200 | Oct 17, 2022 (156) |
211 | TopMed | NC_000001.11 - 236885200 | Apr 25, 2021 (155) |
212 | UK 10K study - Twins | NC_000001.10 - 237048500 | Oct 11, 2018 (152) |
213 | A Vietnamese Genetic Variation Database | NC_000001.10 - 237048500 | Jul 12, 2019 (153) |
214 | ALFA | NC_000001.11 - 236885200 | Apr 25, 2021 (155) |
215 | ClinVar | RCV000015355.3 | Oct 17, 2022 (156) |
216 | ClinVar | RCV000126868.5 | Oct 17, 2022 (156) |
217 | ClinVar | RCV000144923.2 | Oct 17, 2022 (156) |
218 | ClinVar | RCV000398009.4 | Oct 17, 2022 (156) |
219 | ClinVar | RCV001519615.5 | Oct 17, 2022 (156) |
220 | ClinVar | RCV001812069.3 | Oct 17, 2022 (156) |
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) |
---|---|
rs17658739 | Oct 07, 2004 (123) |
rs56618494 | May 26, 2008 (130) |
rs61036243 | May 26, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss3638926432, ss3639462288 | NC_000001.8:233374540:A:G | NC_000001.11:236885199:A:G | (self) |
37941, 46236, ss66104884, ss76077368, ss109063117, ss165918430, ss172421676, ss199793947, ss205113092, ss276275526, ss480301698, ss491618319, ss825424843, ss1397276854, ss1585697807, ss1712416975, ss2635008747, ss3642828375, ss3847368344 | NC_000001.9:235115122:A:G | NC_000001.11:236885199:A:G | (self) |
6089531, 3371841, 37065, 2382307, 5372813, 12666, 1945793, 1430493, 190483, 1474937, 3728476, 65961, 1272998, 87428, 1559321, 3211293, 838824, 7050094, 3371841, 733850, ss218959600, ss230960721, ss238563536, ss342038679, ss480312788, ss481068862, ss484948646, ss489798939, ss491313133, ss536992665, ss555231387, ss648805201, ss778841613, ss780764499, ss782920630, ss783443752, ss783883638, ss832175759, ss832841905, ss834302171, ss974440547, ss976295914, ss1067433787, ss1068715984, ss1295214152, ss1426155743, ss1574776713, ss1584016205, ss1602442378, ss1645436411, ss1686130510, ss1710949209, ss1751907266, ss1751907267, ss1917744480, ss1919517391, ss1946027885, ss1946027886, ss1958370938, ss1958370939, ss2020285296, ss2094786983, ss2095003157, ss2148322470, ss2624655720, ss2632648299, ss2698324981, ss2710698101, ss2732391632, ss2746597661, ss2767807815, ss2984899001, ss2985542765, ss2988685207, ss3021195275, ss3021195276, ss3343979947, ss3625569784, ss3626342511, ss3626342512, ss3630677205, ss3632930953, ss3633627269, ss3634380713, ss3634380714, ss3635320244, ss3636059658, ss3637070798, ss3637822783, ss3640088066, ss3640088067, ss3644523888, ss3644523889, ss3646255913, ss3651541205, ss3651541206, ss3653669222, ss3656644059, ss3727988133, ss3744063048, ss3744362342, ss3744681620, ss3744681621, ss3747514411, ss3772182394, ss3772182395, ss3823731981, ss3825591919, ss3826719865, ss3851194313, ss3896551082, ss3983968551, ss3983968552, ss3984861501, ss3986165572, ss4016970238, ss5149080787, ss5237284600, ss5314694233, ss5325689969, ss5506239031, ss5624004920, ss5624234093, ss5627728195, ss5799516328, ss5800091401, ss5833463520, ss5847177450, ss5847579938, ss5848289822, ss5939579364, ss5979309989, ss5980024709, ss5981325837 | NC_000001.10:237048499:A:G | NC_000001.11:236885199:A:G | (self) |
RCV000015355.3, RCV000126868.5, RCV000144923.2, RCV000398009.4, RCV001519615.5, RCV001812069.3, 8156619, 43626057, 298105, 3164656, 104175, 956, 10867737, 52075581, 5576553460, ss1457618440, ss2171247443, ss3023904240, ss3688911199, ss3725119142, ss3770882706, ss3800516770, ss3946786655, ss4488469246, ss5236880519, ss5237167235, ss5237634801, ss5246290769, ss5314399896, ss5446678748, ss5520630684, ss5677030633, ss5801766673, ss5849350533, ss5912543399 | NC_000001.11:236885199:A:G | NC_000001.11:236885199:A:G | (self) |
ss14457700, ss16445715, ss19141926 | NT_004836.15:1806288:A:G | NC_000001.11:236885199:A:G | (self) |
ss2961149, ss3211692, ss5772546, ss24276502, ss43992346, ss48295814, ss65983298, ss66609132, ss67197140, ss67586254, ss68797693, ss70675351, ss71238373, ss75479819, ss79094325, ss83877873, ss84173114, ss86238155, ss121814733, ss153737211, ss159329896, ss159700995, ss160463268, ss161232462, ss170816095, ss172926471, ss244285183 | NT_167186.1:30566278:A:G | NC_000001.11:236885199:A:G | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
9919998 | The frequency of a common mutation of the methionine synthase gene in the Australian population and its relation to smoking and coronary artery disease. | Wang XL et al. | 1998 | Journal of cardiovascular risk |
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 |
18098291 | Folate metabolism genes, vegetable intake and renal cancer risk in central Europe. | Moore LE et al. | 2008 | International journal of cancer |
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 |
18381459 | Genetic variation in the one-carbon transfer pathway and ovarian cancer risk. | Kelemen LE et al. | 2008 | Cancer research |
18521744 | BRCA1 promoter methylation is associated with increased mortality among women with breast cancer. | Xu X et al. | 2009 | Breast cancer research and treatment |
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 |
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 |
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 |
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 |
19376481 | One-carbon metabolism and breast cancer: an epidemiological perspective. | Xu X et al. | 2009 | Journal of genetics and genomics = Yi chuan xue bao |
19493349 | 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. | Shaw GM et al. | 2009 | BMC medical genetics |
19525478 | Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study. | Mälarstig A et al. | 2009 | Blood |
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 |
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 |
19737740 | Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. | Mostowska A et al. | 2010 | Journal of medical genetics |
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 |
19936946 | Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. | Hazra A et al. | 2010 | Cancer causes & control |
20099281 | Blood leukocyte DNA hypomethylation and gastric cancer risk in a high-risk Polish population. | Hou L et al. | 2010 | International journal of cancer |
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 |
20490431 | 5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer. | Galbiatti AL et al. | 2010 | Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas |
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 |
20549016 | MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancer. | Wettergren Y et al. | 2010 | Molecular medicine (Cambridge, Mass.) |
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 |
20615890 | A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk. | Levine AJ et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
20670920 | Association of genetic variation in cystathionine-beta-synthase and arsenic metabolism. | Porter KE et al. | 2010 | Environmental 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 |
20811316 | SLC19A1 pharmacogenomics summary. | Yee SW et al. | 2010 | Pharmacogenetics and genomics |
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 |
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 |
21036793 | Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field. | Ogino S et al. | 2011 | Gut |
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 |
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 |
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 |
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 |
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 |
21533266 | Data integration workflow for search of disease driving genes and genetic variants. | Karinen S 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 |
21610500 | Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. | Schmidt RJ et al. | 2011 | Epidemiology (Cambridge, Mass.) |
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 |
21688148 | Polymorphic variants of genes involved in homocysteine metabolism in celiac disease. | Hozyasz KK et al. | 2012 | Molecular biology reports |
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 |
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 |
21960995 | Common variants of homocysteine metabolism pathway genes and risk of type 2 diabetes and related traits in Indians. | Chauhan G et al. | 2012 | Experimental diabetes research |
22021659 | Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia. | Roffman JL et al. | 2013 | Schizophrenia bulletin |
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 |
22199995 | The causal roles of vitamin B(12) and transcobalamin in prostate cancer: can Mendelian randomization analysis provide definitive answers? | Collin SM et al. | 2011 | International journal of molecular epidemiology and genetics |
22371529 | DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study. | Xu X et al. | 2012 | FASEB journal |
22496743 | Genetic variant of AMD1 is associated with obesity in urban Indian children. | Tabassum R et al. | 2012 | PloS one |
22616673 | Global tests of P-values for multifactor dimensionality reduction models in selection of optimal number of target genes. | Dai H et al. | 2012 | BioData mining |
22719222 | The polymorphisms in methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and the risk of colorectal cancer. | Zhou D et al. | 2012 | International journal of biological sciences |
22792358 | Association between genetic variants in DNA and histone methylation and telomere length. | Kim S et al. | 2012 | PloS one |
22833659 | Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults. | Clifford AJ et al. | 2012 | The Journal of nutrition |
22839213 | Association of postmenopausal endogenous sex hormones with global methylation level of leukocyte DNA among Japanese women. | Iwasaki M et al. | 2012 | BMC cancer |
22957669 | Association of dietary and genetic factors related to one-carbon metabolism with global methylation level of leukocyte DNA. | Ono H et al. | 2012 | Cancer science |
23139751 | Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. | Rodriguez-Flores JL et al. | 2012 | PloS one |
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 |
23401104 | Folate-genetics and colorectal neoplasia: what we know and need to know next. | Figueiredo JC et al. | 2013 | Molecular nutrition & food research |
23446900 | One-carbon metabolism factors and leukocyte telomere length. | Liu JJ et al. | 2013 | The American journal of clinical nutrition |
23560644 | Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Ménière's disease. | Teranishi M et al. | 2013 | Free radical research |
23656756 | Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults. | Clifford AJ et al. | 2013 | Lipids in health and disease |
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 |
23951366 | Application of artificial neural networks to investigate one-carbon metabolism in Alzheimer's disease and healthy matched individuals. | Coppedè F et al. | 2013 | PloS one |
24048206 | Neural tube defects, folic acid and methylation. | Imbard A et al. | 2013 | International journal of environmental research and public health |
24063603 | Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma. | Senses KM et al. | 2013 | BMC medical genetics |
24103477 | Methylenetetrahydrofolate reductase C677T and methionine synthase A2756G polymorphisms influence on leukocyte genomic DNA methylation level. | Weiner AS et al. | 2014 | Gene |
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 |
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 |
24521996 | Genetic variants and multiple myeloma risk: IMMEnSE validation of the best reported associations--an extensive replication of the associations from the candidate gene era. | Martino A et al. | 2014 | Cancer epidemiology, biomarkers & prevention |
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 |
24534481 | Association between TLR2, MTR, MTRR, XPC, TP73, TP53 genetic polymorphisms and gastric cancer: a meta-analysis. | Cheng C et al. | 2014 | Clinics and research in hepatology and gastroenterology |
24748989 | Association of methionine synthase rs1801394 and methionine synthase reductase rs1805087 polymorphisms with meningioma in adults: A meta-analysis. | Zeng XT et al. | 2014 | Biomedical reports |
24956146 | No association between MTR rs1805087 A > G polymorphism and non-Hodgkin lymphoma susceptibility: evidence from 11 486 subjects. | He J et al. | 2015 | Leukemia & lymphoma |
24991206 | Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma. | Goricar K et al. | 2014 | Radiology and oncology |
25227144 | Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome. | Angelini S et al. | 2015 | European journal of human genetics |
25293959 | Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects. | Pangilinan F et al. | 2014 | BMC medical genetics |
25315199 | Genetic association and gene expression studies suggest that genetic variants in the SYNE1 and TNF genes are related to menstrual migraine. | Rodriguez-Acevedo AJ et al. | 2014 | The journal of headache and pain |
25337902 | Single nucleotide polymorphisms of one-carbon metabolism and cancers of the esophagus, stomach, and liver in a Chinese population. | Chang SC et al. | 2014 | PloS one |
25506935 | An integrative computational approach for prioritization of genomic variants. | Dubchak I et al. | 2014 | PloS one |
25604861 | Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and breast cancer risk: a case-control study in the Greek-Cypriot female population. | Kakkoura MG et al. | 2015 | Genes & nutrition |
25625218 | Correlation of homocysteine metabolic enzymes gene polymorphism and mild cognitive impairment in the Xinjiang Uygur population. | Luo M et al. | 2015 | Medical science monitor |
25928231 | Association of 42 SNPs with genetic risk for cervical cancer: an extensive meta-analysis. | Wang S et al. | 2015 | BMC medical genetics |
25962431 | Association of the Asp312Asn and Lys751Gln polymorphisms in the XPD gene with the risk of non-Hodgkin's lymphoma: evidence from a meta-analysis. | Chen S et al. | 2015 | Chinese journal of cancer |
26196053 | Association between genetic polymorphisms in folate-related enzyme genes and infertile men with non-obstructive azoospermia. | Kim SY et al. | 2015 | Systems biology in reproductive medicine |
26337056 | Joint associations of folate, homocysteine and MTHFR, MTR and MTRR gene polymorphisms with dyslipidemia in a Chinese hypertensive population: a cross-sectional study. | Li WX et al. | 2015 | Lipids in health and disease |
26451011 | Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. | Montazeri Z et al. | 2016 | International journal of epidemiology |
27097558 | Polymorphisms in the MTHFR and MTR genes and the risk of varicose veins in ethnical Russians. | Shadrina AS et al. | 2016 | Biomarkers |
27143935 | Genetic association between interluekin-4 rs2243250 polymorphism and gastric cancer susceptibility: evidence based on a meta-analysis. | Zhang C et al. | 2016 | OncoTargets and therapy |
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 |
27404801 | Joint effects of folate intake and one-carbon-metabolizing genetic polymorphisms on breast cancer risk: a case-control study in China. | Luo WP et al. | 2016 | Scientific reports |
27473058 | Associations between polymorphisms in folate-metabolizing genes and pancreatic cancer risk in Japanese subjects. | Nakao H et al. | 2016 | BMC gastroenterology |
27676277 | Moving toward personalized medicine in rheumatoid arthritis: SNPs in methotrexate intracellular pathways are associated with methotrexate therapeutic outcome. | Lima A et al. | 2016 | Pharmacogenomics |
27690091 | Intakes of Folate and Vitamin B12 and Biomarkers of Status in the Very Old: The Newcastle 85+ Study. | Mendonça N et al. | 2016 | Nutrients |
27803768 | Polymorphisms of folate metabolism genes in patients with cirrhosis and hepatocellular carcinoma. | Peres NP et al. | 2016 | World journal of hepatology |
27808252 | Functional variants of the 5-methyltetrahydrofolate-homocysteine methyltransferase gene significantly increase susceptibility to prostate cancer: Results from an ethnic Han Chinese population. | Qu YY et al. | 2016 | Scientific reports |
27822905 | Associations between homocysteine metabolism related SNPs and carotid intima-media thickness: a Chinese sib pair study. | Sun K et al. | 2017 | Journal of thrombosis and thrombolysis |
27827401 | Alcohol consumption, genetic variants in the alcohol- and folate metabolic pathways and colorectal cancer risk: the JPHC Study. | Svensson T et al. | 2016 | Scientific reports |
28094822 | Analysis of methionine synthase (rs1805087) gene polymorphism in autism patients in Northern Iran. | Haghiri R et al. | 2016 | Acta neurobiologiae experimentalis |
28118645 | A Polymorphism in the MTRR Gene Is Associated with Early Childhood Caries and Underweight. | Antunes LA et al. | 2017 | Caries research |
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 |
28405167 | Genetic variants and increased risk of meningioma: an updated meta-analysis. | Han XY et al. | 2017 | OncoTargets and therapy |
28514598 | The communal relation of MTHFR, MTR, ACE gene polymorphisms and hyperhomocysteinemia as conceivable risk of coronary artery disease. | Masud R et al. | 2017 | Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme |
28537809 | Association of Three Single Nucleotide Polymorphisms in MTR and MTRR Genes with Lung Cancer in a Turkish Population. | Aksoy-Sagirli P et al. | 2017 | Genetic testing and molecular biomarkers |
28572465 | Relationship Between Polymorphisms in Methotrexate Pathway Genes and Outcome of Methotrexate Treatment in a Cohort of 119 Patients with Juvenile Idiopathic Arthritis. | Zajc Avramovič M et al. | 2017 | The Journal of rheumatology |
28587068 | Genetic Variants Involved in One-Carbon Metabolism: Polymorphism Frequencies and Differences in Homocysteine Concentrations in the Folic Acid Fortification Era. | Steluti J et al. | 2017 | Nutrients |
28770393 | Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway. | Cao L et al. | 2018 | Child's nervous system |
28943344 | Polymorphisms of the folate metabolizing enzymes: Association with SLE susceptibility and in silico analysis. | Salimi S et al. | 2017 | Gene |
29343135 | Genetic polymorphisms in folate metabolism as risk for Down syndrome in the southern China. | Jiajin L et al. | 2019 | The journal of maternal-fetal & neonatal medicine |
29348398 | Association Study of Polymorphisms in Genes Relevant to Vitamin B12 and Folate Metabolism with Childhood Autism Spectrum Disorder in a Han Chinese Population. | Zhang Z et al. | 2018 | Medical science monitor |
29369772 | Polymorphisms in folate metabolism genes are associated with susceptibility to presbycusis. | Manche SK et al. | 2018 | Life sciences |
29407547 | Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems. | Saha T et al. | 2018 | Progress in neuro-psychopharmacology & biological psychiatry |
29662106 | Pharmacogenetics of platinum-based chemotherapy: impact of DNA repair and folate metabolism gene polymorphisms on prognosis of non-small cell lung cancer patients. | Pérez-Ramírez C et al. | 2019 | The pharmacogenomics journal |
30337500 | A single-nucleotide polymorphism (rs1805087) in the methionine synthase (METH) gene increases the risk of prostate cancer. | Zhang X et al. | 2018 | Aging |
30337837 | Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis. | Wen J et al. | 2018 | Cancer cell international |
30409984 | Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. | John SE et al. | 2018 | Scientific reports |
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 |
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 |
30703610 | Gene-environment interaction and maternal arsenic methylation efficiency during pregnancy. | Gao S et al. | 2019 | Environment international |
30899306 | Polymorphisms in MTHFR, MTR, RFC1 and CßS genes involved in folate metabolism and thyroid cancer: a case-control study. | Zara-Lopes T et al. | 2019 | Archives of medical science |
30911047 | Genetic polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population. | Deng C et al. | 2019 | Scientific reports |
31005971 | The MTHFR 677C>T polymorphism is associated with unmetabolized folic acid in breast milk in a cohort of Canadian women. | Page R et al. | 2019 | The American journal of clinical nutrition |
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) |
31181069 | Influence of genetic factors on long-term treatment related neurocognitive complications, and on anxiety and depression in survivors of childhood acute lymphoblastic leukemia: The Petale study. | Petrykey K et al. | 2019 | PloS one |
31370354 | Association of Polymorphisms in Genes Involved in One-Carbon Metabolism with MTHFR Methylation Levels. | Coppedè F et al. | 2019 | International journal of molecular sciences |
31549463 | Associations between folate metabolism enzyme polymorphisms and breast cancer: A meta-analysis. | Mo W et al. | 2020 | The breast journal |
31817852 | Plasma Homocysteine and Polymorphisms of Genes Involved in Folate Metabolism Correlate with DNMT1 Gene Methylation Levels. | Coppedè F et al. | 2019 | Metabolites |
32722923 | The relationship between methionine synthase rs1805087 polymorphism and hematological cancers risk. | Bai Y et al. | 2020 | Future oncology (London, England) |
32770085 | Update analysis on the association between Methionine synthase rs1805087 A/G variant and risk of prostate cancer. | Zhang W et al. | 2020 | Scientific reports |
33013017 | Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis. | Paradkar MU et al. | 2020 | Indian journal of clinical biochemistry |
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 |
33274184 | Folate System Gene Variant rs1801394 66A>G may have a Causal Role in Down Syndrome in the Eastern Indian Population. | Chatterjee M et al. | 2020 | International journal of molecular and cellular medicine |
33391382 | Variants of Genes Involved in Metabolism of Folate Among Patients with Breast Cancer: Association of TYMS 3R Allele with Susceptibility to Breast Cancer and Metastasis. | Rahimi Z et al. | 2021 | Iranian journal of pathology |
34027569 | Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women. | Kwon BN et al. | 2021 | Genes & genomics |
34749329 | ANALYSIS OF RELATIONSHIP BETWEEN POLYMORPHISM OF MTHFR (C677T), MTHFR (A1298C), MTR (A2756G) GENES IN THE DEVELOPMENT OF ISCHEMIC STROKE IN YOUNG PATIENTS. | Mialovytska O et al. | 2021 | Georgian medical news |
34975123 | The risk stratification of coronary vascular disease as linked to homocysteine, its modulating genes, genetic polymorphisms, conventional predictors, and with antihypertensive medicaments. | Masud R et al. | 2021 | The Chinese journal of physiology |
34994003 | One-carbon metabolism pathway genes and their non-association with the development of amyotrophic lateral sclerosis. | de Lima NS et al. | 2022 | Journal of cellular biochemistry |
35098008 | Maternal polymorphic loci of rs1979277 serine hydroxymethyl transferase and rs1805087 5-methylenetetrahydrofolate are correlated with the development of fetal growth restriction: A case-control study. | Efremova O et al. | 2021 | International journal of reproductive biomedicine |
35207533 | Association of the DNA Methyltransferase and Folate Cycle Enzymes' Gene Polymorphisms with Coronary Restenosis. | Timizheva KB et al. | 2022 | Life (Basel, Switzerland) |
35332781 | Folate metabolism abnormalities in infertile patients with endometriosis. | Guedes T et al. | 2022 | Biomarkers in medicine |
35802641 | Association between MTR A2756G polymorphism and susceptibility to congenital heart disease: A meta-analysis. | Liu W et al. | 2022 | PloS one |
35830630 | Evidence of Association between MTRR and TNF-α Gene Polymorphisms and Oral Health-Related Quality of Life in Children with Anterior Open Bite. | Teixeira EC et al. | 2022 | The Journal of clinical pediatric dentistry |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.