rs386134210
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs386134210(A;A) |
| Make rs386134210(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132387045 |
| Gene | SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386134210 |
| dbSNP (classic) | rs386134210 |
| ClinGen | rs386134210 |
| ebi | rs386134210 |
| HLI | rs386134210 |
| Exac | rs386134210 |
| Gnomad | rs386134210 |
| Varsome | rs386134210 |
| LitVar | rs386134210 |
| Map | rs386134210 |
| PheGenI | rs386134210 |
| Biobank | rs386134210 |
| 1000 genomes | rs386134210 |
| hgdp | rs386134210 |
| ensembl | rs386134210 |
| geneview | rs386134210 |
| scholar | rs386134210 |
| rs386134210 | |
| pharmgkb | rs386134210 |
| gwascentral | rs386134210 |
| openSNP | rs386134210 |
| 23andMe | rs386134210 |
| SNPshot | rs386134210 |
| SNPdbe | rs386134210 |
| MSV3d | rs386134210 |
| GWAS Ctlg | rs386134210 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386134210(A;A) |
| Alt | rs386134210(A;A) |
| Reference | Rs386134210(G;G) |
| Significance | Pathogenic |
| Disease | Renal carnitine transport defect not provided |
| Variation | info |
| Gene | SLC22A5 |
| CLNDBN | Renal carnitine transport defect not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.131722737G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000022354.5, RCV000413524.1, |
[PMID 16652335] Pharmacological rescue of carnitine transport in primary carnitine deficiency.
