rs2066470
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2066470(C;T) |
| Make rs2066470(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 11803000 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2066470 |
| dbSNP (classic) | rs2066470 |
| ClinGen | rs2066470 |
| ebi | rs2066470 |
| HLI | rs2066470 |
| Exac | rs2066470 |
| Gnomad | rs2066470 |
| Varsome | rs2066470 |
| LitVar | rs2066470 |
| Map | rs2066470 |
| PheGenI | rs2066470 |
| Biobank | rs2066470 |
| 1000 genomes | rs2066470 |
| hgdp | rs2066470 |
| ensembl | rs2066470 |
| geneview | rs2066470 |
| scholar | rs2066470 |
| rs2066470 | |
| pharmgkb | rs2066470 |
| gwascentral | rs2066470 |
| openSNP | rs2066470 |
| 23andMe | rs2066470 |
| SNPshot | rs2066470 |
| SNPdbe | rs2066470 |
| MSV3d | rs2066470 |
| GWAS Ctlg | rs2066470 |
| GMAF | 0.08678 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
Associated with lean body mass but not fat body mass in a study of ~1,800 Caucasians [PMID 18180959]
[PMID 19593234
] Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women
[PMID 18538037] A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19064578] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
[PMID 20078877] Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.
| ClinVar | |
|---|---|
| Risk | rs2066470(G;G) rs2066470(T;T) |
| Alt | rs2066470(G;G) rs2066470(T;T) |
| Reference | Rs2066470(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.11863057G>A |
| CLNSRC | |
| CLNACC | RCV000355803.1, RCV000420664.1, |
