rs139203363
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs139203363(A;A) |
| Make rs139203363(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 5 |
| Position | 132370006 |
| Gene | LOC553103, SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139203363 |
| dbSNP (classic) | rs139203363 |
| ClinGen | rs139203363 |
| ebi | rs139203363 |
| HLI | rs139203363 |
| Exac | rs139203363 |
| Gnomad | rs139203363 |
| Varsome | rs139203363 |
| LitVar | rs139203363 |
| Map | rs139203363 |
| PheGenI | rs139203363 |
| Biobank | rs139203363 |
| 1000 genomes | rs139203363 |
| hgdp | rs139203363 |
| ensembl | rs139203363 |
| geneview | rs139203363 |
| scholar | rs139203363 |
| rs139203363 | |
| pharmgkb | rs139203363 |
| gwascentral | rs139203363 |
| openSNP | rs139203363 |
| 23andMe | rs139203363 |
| SNPshot | rs139203363 |
| SNPdbe | rs139203363 |
| MSV3d | rs139203363 |
| GWAS Ctlg | rs139203363 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs139203363(A;A) |
| Alt | rs139203363(A;A) |
| Reference | Rs139203363(G;G) |
| Significance | Untested |
| Disease | Renal carnitine transport defect |
| Variation | info |
| Gene | LOC553103 SLC22A5 |
| CLNDBN | Renal carnitine transport defect |
| Reversed | 0 |
| HGVS | NC_000005.9:g.131705698G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000022295.3, |
