rs781469274
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs781469274(A;A) |
| Make rs781469274(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 13792128 |
| Gene | DNAH5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs781469274 |
| dbSNP (classic) | rs781469274 |
| ClinGen | rs781469274 |
| ebi | rs781469274 |
| HLI | rs781469274 |
| Exac | rs781469274 |
| Gnomad | rs781469274 |
| Varsome | rs781469274 |
| LitVar | rs781469274 |
| Map | rs781469274 |
| PheGenI | rs781469274 |
| Biobank | rs781469274 |
| 1000 genomes | rs781469274 |
| hgdp | rs781469274 |
| ensembl | rs781469274 |
| geneview | rs781469274 |
| scholar | rs781469274 |
| rs781469274 | |
| pharmgkb | rs781469274 |
| gwascentral | rs781469274 |
| openSNP | rs781469274 |
| 23andMe | rs781469274 |
| SNPshot | rs781469274 |
| SNPdbe | rs781469274 |
| MSV3d | rs781469274 |
| GWAS Ctlg | rs781469274 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs781469274(A;A) |
| Alt | rs781469274(A;A) |
| Reference | Rs781469274(G;G) |
| Significance | Pathogenic |
| Disease | Primary ciliary dyskinesia |
| Variation | info |
| Gene | DNAH5 |
| CLNDBN | Primary ciliary dyskinesia |
| Reversed | 0 |
| HGVS | NC_000005.9:g.13792237G>A |
| CLNSRC | |
| CLNACC | RCV000473928.1, |
