rs819146
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs819146(G;T) |
| Make rs819146(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 34303394 |
| Gene | AHCY |
| is a | snp |
| is | mentioned by |
| dbSNP | rs819146 |
| dbSNP (classic) | rs819146 |
| ClinGen | rs819146 |
| ebi | rs819146 |
| HLI | rs819146 |
| Exac | rs819146 |
| Gnomad | rs819146 |
| Varsome | rs819146 |
| LitVar | rs819146 |
| Map | rs819146 |
| PheGenI | rs819146 |
| Biobank | rs819146 |
| 1000 genomes | rs819146 |
| hgdp | rs819146 |
| ensembl | rs819146 |
| geneview | rs819146 |
| scholar | rs819146 |
| rs819146 | |
| pharmgkb | rs819146 |
| gwascentral | rs819146 |
| openSNP | rs819146 |
| 23andMe | rs819146 |
| SNPshot | rs819146 |
| SNPdbe | rs819146 |
| MSV3d | rs819146 |
| GWAS Ctlg | rs819146 |
| GMAF | 0.287 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 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
| ClinVar | |
|---|---|
| Risk | rs819146(T;T) |
| Alt | rs819146(T;T) |
| Reference | Rs819146(G;G) |
| Significance | Non-pathogenic |
| Disease | Hypermethioninemia |
| Variation | info |
| Gene | AHCY |
| CLNDBN | Hypermethioninemia |
| Reversed | 0 |
| HGVS | NC_000020.10:g.32891200G>T |
| CLNSRC | |
| CLNACC | RCV000348058.1, |
