rs2853523
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2853523(A;C) |
| Make rs2853523(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 236898898 |
| Gene | MTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2853523 |
| dbSNP (classic) | rs2853523 |
| ClinGen | rs2853523 |
| ebi | rs2853523 |
| HLI | rs2853523 |
| Exac | rs2853523 |
| Gnomad | rs2853523 |
| Varsome | rs2853523 |
| LitVar | rs2853523 |
| Map | rs2853523 |
| PheGenI | rs2853523 |
| Biobank | rs2853523 |
| 1000 genomes | rs2853523 |
| hgdp | rs2853523 |
| ensembl | rs2853523 |
| geneview | rs2853523 |
| scholar | rs2853523 |
| rs2853523 | |
| pharmgkb | rs2853523 |
| gwascentral | rs2853523 |
| openSNP | rs2853523 |
| 23andMe | rs2853523 |
| SNPshot | rs2853523 |
| SNPdbe | rs2853523 |
| MSV3d | rs2853523 |
| GWAS Ctlg | rs2853523 |
| GMAF | 0.2645 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 20871623
] Genetic analysis of six SNPs in candidate genes associated with high cross-race risk of development of thoracic aortic aneurysms and dissections in Chinese Han population
[PMID 18381459] Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.
| ClinVar | |
|---|---|
| Risk | rs2853523(C;C) |
| Alt | rs2853523(C;C) |
| Reference | Rs2853523(A;A) |
| Significance | Non-pathogenic |
| Disease | Disorders of Intracellular Cobalamin Metabolism |
| Variation | info |
| Gene | MTR |
| CLNDBN | Disorders of Intracellular Cobalamin Metabolism |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237062198A>C |
| CLNSRC | |
| CLNACC | RCV000360926.1, |
