rs2274976
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs2274976(A;A) |
| Make rs2274976(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11790870 |
| 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 | 0.05096 |
| 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].
[PMID 24254627] MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the brazilian population
| ClinVar | |
|---|---|
| Risk | rs2274976(A;A) |
| Alt | rs2274976(A;A) |
| Reference | Rs2274976(G;G) |
| Significance | Other |
| Disease | not provided Neural tube defects not specified |
| Variation | info |
| Gene | MTHFR |
| CLNDBN | not provided Neural tube defects, folate-sensitive not specified |
| Reversed | 1 |
| HGVS | NC_000001.10:g.11850927C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000174348.2, RCV000267830.1, RCV000433699.2, |
[PMID 26522108] Methylenetetrahydrofolate reductase gene polymorphism in endometrial cancer: A systematic review and meta-analysis
[PMID 32117640] Single nucleotide polymorphism of MTHFR rs1801133 associated with elevated Hcy levels affects susceptibility to cerebral small vessel disease.
[PMID 32617779] Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population.
[PMID 32682401] Association of ESR1 (rs2234693 and rs9340799), CETP (rs708272), MTHFR (rs1801133 and rs2274976) and MS (rs185087) polymorphisms with Coronary Artery Disease (CAD).
