rs138320978
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs138320978(A;A) |
| Make rs138320978(A;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 42493049 |
| Gene | RSPH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138320978 |
| dbSNP (classic) | rs138320978 |
| ClinGen | rs138320978 |
| ebi | rs138320978 |
| HLI | rs138320978 |
| Exac | rs138320978 |
| Gnomad | rs138320978 |
| Varsome | rs138320978 |
| LitVar | rs138320978 |
| Map | rs138320978 |
| PheGenI | rs138320978 |
| Biobank | rs138320978 |
| 1000 genomes | rs138320978 |
| hgdp | rs138320978 |
| ensembl | rs138320978 |
| geneview | rs138320978 |
| scholar | rs138320978 |
| rs138320978 | |
| pharmgkb | rs138320978 |
| gwascentral | rs138320978 |
| openSNP | rs138320978 |
| 23andMe | rs138320978 |
| SNPshot | rs138320978 |
| SNPdbe | rs138320978 |
| MSV3d | rs138320978 |
| GWAS Ctlg | rs138320978 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138320978(A;A) rs138320978(T;T) |
| Alt | rs138320978(A;A) rs138320978(T;T) |
| Reference | Rs138320978(C;C) |
| Significance | Pathogenic |
| Disease | Primary ciliary dyskinesia 24 Kartagener syndrome |
| Variation | info |
| Gene | RSPH1 |
| CLNDBN | Primary ciliary dyskinesia 24 Kartagener syndrome |
| Reversed | 0 |
| HGVS | NC_000021.8:g.43913159C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000057509.4, RCV000190923.1, |
