rs145457535
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs145457535(A;C) |
| Make rs145457535(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 44902549 |
| Gene | CCDC103 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145457535 |
| dbSNP (classic) | rs145457535 |
| ClinGen | rs145457535 |
| ebi | rs145457535 |
| HLI | rs145457535 |
| Exac | rs145457535 |
| Gnomad | rs145457535 |
| Varsome | rs145457535 |
| LitVar | rs145457535 |
| Map | rs145457535 |
| PheGenI | rs145457535 |
| Biobank | rs145457535 |
| 1000 genomes | rs145457535 |
| hgdp | rs145457535 |
| ensembl | rs145457535 |
| geneview | rs145457535 |
| scholar | rs145457535 |
| rs145457535 | |
| pharmgkb | rs145457535 |
| gwascentral | rs145457535 |
| openSNP | rs145457535 |
| 23andMe | rs145457535 |
| SNPshot | rs145457535 |
| SNPdbe | rs145457535 |
| MSV3d | rs145457535 |
| GWAS Ctlg | rs145457535 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs145457535(C;C) |
| Alt | rs145457535(C;C) |
| Reference | Rs145457535(A;A) |
| Significance | Pathogenic |
| Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia |
| Variation | info |
| Gene | CCDC103 |
| CLNDBN | Ciliary dyskinesia, primary, 17 Kartagener syndrome Primary ciliary dyskinesia |
| Reversed | 0 |
| HGVS | NC_000017.10:g.42979917A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000024376.4, RCV000190916.1, RCV000226016.2, |
