rs386134211
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs386134211(G;T) |
| Make rs386134211(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132387049 |
| Gene | SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386134211 |
| dbSNP (classic) | rs386134211 |
| ClinGen | rs386134211 |
| ebi | rs386134211 |
| HLI | rs386134211 |
| Exac | rs386134211 |
| Gnomad | rs386134211 |
| Varsome | rs386134211 |
| LitVar | rs386134211 |
| Map | rs386134211 |
| PheGenI | rs386134211 |
| Biobank | rs386134211 |
| 1000 genomes | rs386134211 |
| hgdp | rs386134211 |
| ensembl | rs386134211 |
| geneview | rs386134211 |
| scholar | rs386134211 |
| rs386134211 | |
| pharmgkb | rs386134211 |
| gwascentral | rs386134211 |
| openSNP | rs386134211 |
| 23andMe | rs386134211 |
| SNPshot | rs386134211 |
| SNPdbe | rs386134211 |
| MSV3d | rs386134211 |
| GWAS Ctlg | rs386134211 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386134211(T;T) |
| Alt | rs386134211(T;T) |
| Reference | Rs386134211(G;G) |
| Significance | Untested |
| Disease | Renal carnitine transport defect |
| Variation | info |
| Gene | SLC22A5 |
| CLNDBN | Renal carnitine transport defect |
| Reversed | 0 |
| HGVS | NC_000005.9:g.131722741G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000022356.2, |
[PMID 10545605] Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
