rs200699819
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200699819(A;A) |
| Make rs200699819(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132385436 |
| Gene | SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200699819 |
| dbSNP (classic) | rs200699819 |
| ClinGen | rs200699819 |
| ebi | rs200699819 |
| HLI | rs200699819 |
| Exac | rs200699819 |
| Gnomad | rs200699819 |
| Varsome | rs200699819 |
| LitVar | rs200699819 |
| Map | rs200699819 |
| PheGenI | rs200699819 |
| Biobank | rs200699819 |
| 1000 genomes | rs200699819 |
| hgdp | rs200699819 |
| ensembl | rs200699819 |
| geneview | rs200699819 |
| scholar | rs200699819 |
| rs200699819 | |
| pharmgkb | rs200699819 |
| gwascentral | rs200699819 |
| openSNP | rs200699819 |
| 23andMe | rs200699819 |
| SNPshot | rs200699819 |
| SNPdbe | rs200699819 |
| MSV3d | rs200699819 |
| GWAS Ctlg | rs200699819 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200699819(A;A) |
| Alt | rs200699819(A;A) |
| Reference | Rs200699819(G;G) |
| Significance | Untested |
| Disease | Renal carnitine transport defect not specified |
| Variation | info |
| Gene | SLC22A5 |
| CLNDBN | Renal carnitine transport defect not specified |
| Reversed | 0 |
| HGVS | NC_000005.9:g.131721128G>A |
| CLNSRC | ARUP SLC22A5 |
| CLNACC | RCV000022342.2, RCV000398486.1, |
