rs4846049
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs4846049(G;G) |
| Make rs4846049(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11790308 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4846049 |
| dbSNP (classic) | rs4846049 |
| ClinGen | rs4846049 |
| ebi | rs4846049 |
| HLI | rs4846049 |
| Exac | rs4846049 |
| Gnomad | rs4846049 |
| Varsome | rs4846049 |
| LitVar | rs4846049 |
| Map | rs4846049 |
| PheGenI | rs4846049 |
| Biobank | rs4846049 |
| 1000 genomes | rs4846049 |
| hgdp | rs4846049 |
| ensembl | rs4846049 |
| geneview | rs4846049 |
| scholar | rs4846049 |
| rs4846049 | |
| pharmgkb | rs4846049 |
| gwascentral | rs4846049 |
| openSNP | rs4846049 |
| 23andMe | rs4846049 |
| SNPshot | rs4846049 |
| SNPdbe | rs4846049 |
| MSV3d | rs4846049 |
| GWAS Ctlg | rs4846049 |
| GMAF | 0.3104 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19593234
] Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women
[PMID 22647417] The human MTHFR rs4846049 polymorphism increases coronary heart disease risk through modifying miRNA binding
[PMID 20962791] Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants.
[PMID 25882505] Women who deliver twins are more likely to smoke and have high frequencies of specific SNPs: Results from a sample of African-American women who delivered preterm, low birth weight babies
| ClinVar | |
|---|---|
| Risk | rs4846049(G;G) |
| Alt | rs4846049(G;G) |
| Reference | Rs4846049(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | Neural tube defects |
| Variation | info |
| Gene | MTHFR |
| CLNDBN | Neural tube defects, folate-sensitive |
| Reversed | 0 |
| HGVS | NC_000001.10:g.11850365T>G |
| CLNSRC | |
| CLNACC | RCV000405126.1, |
[PMID 32117640] Single nucleotide polymorphism of MTHFR rs1801133 associated with elevated Hcy levels affects susceptibility to cerebral small vessel disease.
