rs2066462
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2066462(C;T) |
| Make rs2066462(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 11794839 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2066462 |
| dbSNP (classic) | rs2066462 |
| ClinGen | rs2066462 |
| ebi | rs2066462 |
| HLI | rs2066462 |
| Exac | rs2066462 |
| Gnomad | rs2066462 |
| Varsome | rs2066462 |
| LitVar | rs2066462 |
| Map | rs2066462 |
| PheGenI | rs2066462 |
| Biobank | rs2066462 |
| 1000 genomes | rs2066462 |
| hgdp | rs2066462 |
| ensembl | rs2066462 |
| geneview | rs2066462 |
| scholar | rs2066462 |
| rs2066462 | |
| pharmgkb | rs2066462 |
| gwascentral | rs2066462 |
| openSNP | rs2066462 |
| 23andMe | rs2066462 |
| SNPshot | rs2066462 |
| SNPdbe | rs2066462 |
| MSV3d | rs2066462 |
| GWAS Ctlg | rs2066462 |
| GMAF | 0.08815 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 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 18538037] A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.
[PMID 23270270] [Analysis of the MTHFR gene linkage disequilibrium structure and association of polymorphic gene variants with coronary atherosclerosis]
| ClinVar | |
|---|---|
| Risk | rs2066462(T;T) |
| Alt | rs2066462(T;T) |
| Reference | Rs2066462(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Neural tube defects not specified |
| Variation | info |
| Gene | MTHFR |
| CLNDBN | Neural tube defects, folate-sensitive not specified |
| Reversed | 1 |
| HGVS | NC_000001.10:g.11854896G>A |
| CLNSRC | |
| CLNACC | RCV000287984.1, RCV000441116.1, |
