rs72552724
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72552724(G;T) |
| Make rs72552724(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132370055 |
| Gene | LOC553103, SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72552724 |
| dbSNP (classic) | rs72552724 |
| ClinGen | rs72552724 |
| ebi | rs72552724 |
| HLI | rs72552724 |
| Exac | rs72552724 |
| Gnomad | rs72552724 |
| Varsome | rs72552724 |
| LitVar | rs72552724 |
| Map | rs72552724 |
| PheGenI | rs72552724 |
| Biobank | rs72552724 |
| 1000 genomes | rs72552724 |
| hgdp | rs72552724 |
| ensembl | rs72552724 |
| geneview | rs72552724 |
| scholar | rs72552724 |
| rs72552724 | |
| pharmgkb | rs72552724 |
| gwascentral | rs72552724 |
| openSNP | rs72552724 |
| 23andMe | rs72552724 |
| SNPshot | rs72552724 |
| SNPdbe | rs72552724 |
| MSV3d | rs72552724 |
| GWAS Ctlg | rs72552724 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72552724(T;T) |
| Alt | rs72552724(T;T) |
| Reference | Rs72552724(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.131705747G>T |
| CLNSRC | ARUP SLC22A5 |
| CLNACC | RCV000022301.2, |
[PMID 12408185] Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.
