rs113994206
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs113994206(C;C) |
| Make rs113994206(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 3656498 |
| Gene | CTNS, LOC105371492 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113994206 |
| dbSNP (classic) | rs113994206 |
| ClinGen | rs113994206 |
| ebi | rs113994206 |
| HLI | rs113994206 |
| Exac | rs113994206 |
| Gnomad | rs113994206 |
| Varsome | rs113994206 |
| LitVar | rs113994206 |
| Map | rs113994206 |
| PheGenI | rs113994206 |
| Biobank | rs113994206 |
| 1000 genomes | rs113994206 |
| hgdp | rs113994206 |
| ensembl | rs113994206 |
| geneview | rs113994206 |
| scholar | rs113994206 |
| rs113994206 | |
| pharmgkb | rs113994206 |
| gwascentral | rs113994206 |
| openSNP | rs113994206 |
| 23andMe | rs113994206 |
| SNPshot | rs113994206 |
| SNPdbe | rs113994206 |
| MSV3d | rs113994206 |
| GWAS Ctlg | rs113994206 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs113994206(C;C) |
| Alt | rs113994206(C;C) |
| Reference | Rs113994206(T;T) |
| Significance | Pathogenic |
| Disease | Nephropathic cystinosis |
| Variation | info |
| Gene | CTNS |
| CLNDBN | Nephropathic cystinosis |
| Reversed | 0 |
| HGVS | NC_000017.10:g.3559792T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000020624.2, |
[PMID 12644911] New aspects of the pathogenesis of cystinosis.
