rs4846048
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs4846048(A;A) |
| Make rs4846048(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11786195 |
| Gene | C1orf167, MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4846048 |
| dbSNP (classic) | rs4846048 |
| ClinGen | rs4846048 |
| ebi | rs4846048 |
| HLI | rs4846048 |
| Exac | rs4846048 |
| Gnomad | rs4846048 |
| Varsome | rs4846048 |
| LitVar | rs4846048 |
| Map | rs4846048 |
| PheGenI | rs4846048 |
| Biobank | rs4846048 |
| 1000 genomes | rs4846048 |
| hgdp | rs4846048 |
| ensembl | rs4846048 |
| geneview | rs4846048 |
| scholar | rs4846048 |
| rs4846048 | |
| pharmgkb | rs4846048 |
| gwascentral | rs4846048 |
| openSNP | rs4846048 |
| 23andMe | rs4846048 |
| SNPshot | rs4846048 |
| SNPdbe | rs4846048 |
| MSV3d | rs4846048 |
| GWAS Ctlg | rs4846048 |
| GMAF | 0.2544 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 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 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
[PMID 25566964] Polymorphisms in the MTHFR gene are associated with breast cancer risk and prognosis in a Chinese population
| ClinVar | |
|---|---|
| Risk | rs4846048(A;A) |
| Alt | rs4846048(A;A) |
| Reference | Rs4846048(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Neural tube defects |
| Variation | info |
| Gene | MTHFR C1orf167 |
| CLNDBN | Neural tube defects, folate-sensitive |
| Reversed | 0 |
| HGVS | NC_000001.10:g.11846252G>A |
| CLNSRC | |
| CLNACC | RCV000301152.1, |
[PMID 31601265] Polymorphisms of MTHFR and TYMS predict capecitabine-induced hand-foot syndrome in patients with metastatic breast cancer.
[PMID 31750632] The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR-522: A preliminary report.
[PMID 32117640] Single nucleotide polymorphism of MTHFR rs1801133 associated with elevated Hcy levels affects susceptibility to cerebral small vessel disease.
