rs4846051
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (G;G) | 0 | common in clinvar |
| Make rs4846051(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11794400 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4846051 |
| dbSNP (classic) | rs4846051 |
| ClinGen | rs4846051 |
| ebi | rs4846051 |
| HLI | rs4846051 |
| Exac | rs4846051 |
| Gnomad | rs4846051 |
| Varsome | rs4846051 |
| LitVar | rs4846051 |
| Map | rs4846051 |
| PheGenI | rs4846051 |
| Biobank | rs4846051 |
| 1000 genomes | rs4846051 |
| hgdp | rs4846051 |
| ensembl | rs4846051 |
| geneview | rs4846051 |
| scholar | rs4846051 |
| rs4846051 | |
| pharmgkb | rs4846051 |
| gwascentral | rs4846051 |
| openSNP | rs4846051 |
| 23andMe | rs4846051 |
| SNPshot | rs4846051 |
| SNPdbe | rs4846051 |
| MSV3d | rs4846051 |
| GWAS Ctlg | rs4846051 |
| GMAF | 0.07438 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18483346] Direct genotyping of single nucleotide polymorphisms in methyl metabolism genes using probe-free high-resolution melting analysis.
[PMID 19493349
] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
| ClinVar | |
|---|---|
| Risk | Rs4846051(A;A) |
| Alt | Rs4846051(A;A) |
| Reference | Rs4846051(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Neural tube defects |
| Variation | info |
| Gene | MTHFR |
| CLNDBN | not specified Neural tube defects, folate-sensitive |
| Reversed | 0 |
| HGVS | NC_000001.10:g.11854457G>A |
| CLNSRC | |
| CLNACC | RCV000153514.4, RCV000293357.1, |
