rs9593
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs9593(A;A) |
| Make rs9593(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 109557065 |
| Gene | MMAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9593 |
| dbSNP (classic) | rs9593 |
| ClinGen | rs9593 |
| ebi | rs9593 |
| HLI | rs9593 |
| Exac | rs9593 |
| Gnomad | rs9593 |
| Varsome | rs9593 |
| LitVar | rs9593 |
| Map | rs9593 |
| PheGenI | rs9593 |
| Biobank | rs9593 |
| 1000 genomes | rs9593 |
| hgdp | rs9593 |
| ensembl | rs9593 |
| geneview | rs9593 |
| scholar | rs9593 |
| rs9593 | |
| pharmgkb | rs9593 |
| gwascentral | rs9593 |
| openSNP | rs9593 |
| 23andMe | rs9593 |
| SNPshot | rs9593 |
| SNPdbe | rs9593 |
| MSV3d | rs9593 |
| GWAS Ctlg | rs9593 |
| GMAF | 0.4862 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs9593(A;A) rs9593(C;C) |
| Alt | rs9593(A;A) rs9593(C;C) |
| Reference | Rs9593(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Methylmalonic acidemia |
| Variation | info |
| Gene | MMAB |
| CLNDBN | not specified Methylmalonic acidemia |
| Reversed | 1 |
| HGVS | NC_000012.11:g.109994870A>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000082328.8, RCV000320735.1, |
[PMID 29069827
] The effect of MVK-MMAB variants, their haplotypes and G×E interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke.
