rs11568513
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs11568513(A;A) |
| Make rs11568513(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132392606 |
| Gene | SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11568513 |
| dbSNP (classic) | rs11568513 |
| ClinGen | rs11568513 |
| ebi | rs11568513 |
| HLI | rs11568513 |
| Exac | rs11568513 |
| Gnomad | rs11568513 |
| Varsome | rs11568513 |
| LitVar | rs11568513 |
| Map | rs11568513 |
| PheGenI | rs11568513 |
| Biobank | rs11568513 |
| 1000 genomes | rs11568513 |
| hgdp | rs11568513 |
| ensembl | rs11568513 |
| geneview | rs11568513 |
| scholar | rs11568513 |
| rs11568513 | |
| pharmgkb | rs11568513 |
| gwascentral | rs11568513 |
| openSNP | rs11568513 |
| 23andMe | rs11568513 |
| SNPshot | rs11568513 |
| SNPdbe | rs11568513 |
| MSV3d | rs11568513 |
| GWAS Ctlg | rs11568513 |
| GMAF | 0.001837 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs11568513(A;A) rs11568513(T;T) |
| Alt | rs11568513(A;A) rs11568513(T;T) |
| Reference | Rs11568513(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Renal carnitine transport defect |
| Variation | info |
| Gene | SLC22A5 |
| CLNDBN | not specified Renal carnitine transport defect |
| Reversed | 0 |
| HGVS | NC_000005.9:g.131728298G>A; NC_000005.9:g.131728298G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000419453.1, RCV000022384.2, |
[PMID 16931768] Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
