Difference between revisions of "Rs2274976"
SNPediaBot (talk | contribs) m (Set on chip) |
SNPediaBot (talk | contribs) m (added Open Access info) |
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|PMID=22241680 | |PMID=22241680 | ||
|Title=Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele | |Title=Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele | ||
| + | |OA=1 | ||
}} | }} | ||
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|PMID=17697348 | |PMID=17697348 | ||
|Title=Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE). | |Title=Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE). | ||
| + | |OA=1 | ||
}} | }} | ||
| Line 62: | Line 64: | ||
|PMID=18191955 | |PMID=18191955 | ||
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. | |Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. | ||
| + | |OA=1 | ||
}} | }} | ||
| Line 67: | Line 70: | ||
|PMID=19064578 | |PMID=19064578 | ||
|Title=No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk. | |Title=No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk. | ||
| + | |OA=1 | ||
}} | }} | ||
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|PMID=19190136 | |PMID=19190136 | ||
|Title=Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population. | |Title=Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population. | ||
| + | |OA=1 | ||
}} | }} | ||
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|PMID=19421414 | |PMID=19421414 | ||
|Title=Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy. | |Title=Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy. | ||
| + | |OA=1 | ||
}} | }} | ||
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|PMID=19493349 | |PMID=19493349 | ||
|Title=118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. | |Title=118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. | ||
| + | |OA=1 | ||
}} | }} | ||
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|PMID=20031578 | |PMID=20031578 | ||
|Title=Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. | |Title=Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. | ||
| + | |OA=1 | ||
}} | }} | ||
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|PMID=20416077 | |PMID=20416077 | ||
|Title=Identification of type 2 diabetes-associated combination of SNPs using support vector machine. | |Title=Identification of type 2 diabetes-associated combination of SNPs using support vector machine. | ||
| + | |OA=1 | ||
}} | }} | ||
Revision as of 17:29, 8 January 2014
| Orientation | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs2274976(A;A) |
| Make rs2274976(A;G) |
| Reference | GRCh37 37.1/131 |
| Chromosome | 1 |
| Position | 11850927 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2274976 |
| dbSNP (classic) | rs2274976 |
| ClinGen | rs2274976 |
| ebi | rs2274976 |
| HLI | rs2274976 |
| Exac | rs2274976 |
| Gnomad | rs2274976 |
| Varsome | rs2274976 |
| LitVar | rs2274976 |
| Map | rs2274976 |
| PheGenI | rs2274976 |
| Biobank | rs2274976 |
| 1000 genomes | rs2274976 |
| hgdp | rs2274976 |
| ensembl | rs2274976 |
| geneview | rs2274976 |
| scholar | rs2274976 |
| rs2274976 | |
| pharmgkb | rs2274976 |
| gwascentral | rs2274976 |
| openSNP | rs2274976 |
| 23andMe | rs2274976 |
| SNPshot | rs2274976 |
| SNPdbe | rs2274976 |
| MSV3d | rs2274976 |
| GWAS Ctlg | rs2274976 |
| GMAF | 0.0513 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20863444] Associations between the genetic polymorphisms of MTHFR and outcomes of methotrexate treatment in rheumatoid arthritis
[PMID 22241680
] Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele
[PMID 17697348] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 19064578] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
[PMID 19190136] Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.
[PMID 19421414] Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
[PMID 19591822] Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services.
[PMID 20031578] Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.
[PMID 20416077] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
[PMID 20458436] Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.
[PMID 20890936] Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population.
[PMID 21362212] [Detection of single nucleotide polymorphisms of mthfr and dpyd genes in leukemia cell lines K562 and K562/A02].
| GET Evidence | |
|---|---|
| MTHFR-R594Q | |
| aa_change | Arg594Gln |
| aa_change_short | R594Q |
| impact | pharmacogenetic |
| qualified_impact | Insufficiently evaluated pharmacogenetic |
| overall_frequency | 0.040435 |
| summary | |
[PMID 24254627] MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the brazilian population
