rs955833453
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 3655103 |
| Gene | CTNS, LOC105371492 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs955833453 |
| dbSNP (classic) | rs955833453 |
| ClinGen | rs955833453 |
| ebi | rs955833453 |
| HLI | rs955833453 |
| Exac | rs955833453 |
| Gnomad | rs955833453 |
| Varsome | rs955833453 |
| LitVar | rs955833453 |
| Map | rs955833453 |
| PheGenI | rs955833453 |
| Biobank | rs955833453 |
| 1000 genomes | rs955833453 |
| hgdp | rs955833453 |
| ensembl | rs955833453 |
| geneview | rs955833453 |
| scholar | rs955833453 |
| rs955833453 | |
| pharmgkb | rs955833453 |
| gwascentral | rs955833453 |
| openSNP | rs955833453 |
| 23andMe | rs955833453 |
| SNPshot | rs955833453 |
| SNPdbe | rs955833453 |
| MSV3d | rs955833453 |
| GWAS Ctlg | rs955833453 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs955833453(C;C) |
| Alt | rs955833453(C;C) |
| Reference | Rs955833453(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Nephropathic cystinosis |
| Variation | info |
| Gene | |
| CLNDBN | Nephropathic cystinosis |
| Reversed | 0 |
| HGVS | NC_000017.10:g.3558397T>C |
| CLNSRC | |
| CLNACC | RCV000410250.1, |
