rs72552730
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72552730(A;A) |
| Make rs72552730(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 132387102 |
| Gene | SLC22A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72552730 |
| dbSNP (classic) | rs72552730 |
| ClinGen | rs72552730 |
| ebi | rs72552730 |
| HLI | rs72552730 |
| Exac | rs72552730 |
| Gnomad | rs72552730 |
| Varsome | rs72552730 |
| LitVar | rs72552730 |
| Map | rs72552730 |
| PheGenI | rs72552730 |
| Biobank | rs72552730 |
| 1000 genomes | rs72552730 |
| hgdp | rs72552730 |
| ensembl | rs72552730 |
| geneview | rs72552730 |
| scholar | rs72552730 |
| rs72552730 | |
| pharmgkb | rs72552730 |
| gwascentral | rs72552730 |
| openSNP | rs72552730 |
| 23andMe | rs72552730 |
| SNPshot | rs72552730 |
| SNPdbe | rs72552730 |
| MSV3d | rs72552730 |
| GWAS Ctlg | rs72552730 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72552730(A;A) |
| Alt | rs72552730(A;A) |
| Reference | Rs72552730(C;C) |
| Significance | Untested |
| Disease | Renal carnitine transport defect |
| Variation | info |
| Gene | SLC22A5 |
| CLNDBN | Renal carnitine transport defect |
| Reversed | 0 |
| HGVS | NC_000005.9:g.131722794C>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000022358.2, |
[PMID 11058897] Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
