rs151107532
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs151107532(G;G) |
| Make rs151107532(G;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 42486463 |
| Gene | RSPH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151107532 |
| dbSNP (classic) | rs151107532 |
| ClinGen | rs151107532 |
| ebi | rs151107532 |
| HLI | rs151107532 |
| Exac | rs151107532 |
| Gnomad | rs151107532 |
| Varsome | rs151107532 |
| LitVar | rs151107532 |
| Map | rs151107532 |
| PheGenI | rs151107532 |
| Biobank | rs151107532 |
| 1000 genomes | rs151107532 |
| hgdp | rs151107532 |
| ensembl | rs151107532 |
| geneview | rs151107532 |
| scholar | rs151107532 |
| rs151107532 | |
| pharmgkb | rs151107532 |
| gwascentral | rs151107532 |
| openSNP | rs151107532 |
| 23andMe | rs151107532 |
| SNPshot | rs151107532 |
| SNPdbe | rs151107532 |
| MSV3d | rs151107532 |
| GWAS Ctlg | rs151107532 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs151107532(G;G) |
| Alt | rs151107532(G;G) |
| Reference | Rs151107532(T;T) |
| Significance | Pathogenic |
| Disease | Primary ciliary dyskinesia 24 Kartagener syndrome Primary ciliary dyskinesia |
| Variation | info |
| Gene | RSPH1 |
| CLNDBN | Primary ciliary dyskinesia 24 Kartagener syndrome Primary ciliary dyskinesia |
| Reversed | 0 |
| HGVS | NC_000021.8:g.43906573T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000057512.5, RCV000190924.1, RCV000467674.1, |
