rs114269482
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs114269482(C;T) |
| Make rs114269482(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132385370 |
| Gene | SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs114269482 |
| dbSNP (classic) | rs114269482 |
| ClinGen | rs114269482 |
| ebi | rs114269482 |
| HLI | rs114269482 |
| Exac | rs114269482 |
| Gnomad | rs114269482 |
| Varsome | rs114269482 |
| LitVar | rs114269482 |
| Map | rs114269482 |
| PheGenI | rs114269482 |
| Biobank | rs114269482 |
| 1000 genomes | rs114269482 |
| hgdp | rs114269482 |
| ensembl | rs114269482 |
| geneview | rs114269482 |
| scholar | rs114269482 |
| rs114269482 | |
| pharmgkb | rs114269482 |
| gwascentral | rs114269482 |
| openSNP | rs114269482 |
| 23andMe | rs114269482 |
| SNPshot | rs114269482 |
| SNPdbe | rs114269482 |
| MSV3d | rs114269482 |
| GWAS Ctlg | rs114269482 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs114269482(T;T) |
| Alt | rs114269482(T;T) |
| Reference | Rs114269482(C;C) |
| 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.131721062C>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000022339.6, RCV000438010.1, |
