rs148891849
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs148891849(C;C) |
| Make rs148891849(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 13841895 |
| Gene | DNAH5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148891849 |
| dbSNP (classic) | rs148891849 |
| ClinGen | rs148891849 |
| ebi | rs148891849 |
| HLI | rs148891849 |
| Exac | rs148891849 |
| Gnomad | rs148891849 |
| Varsome | rs148891849 |
| LitVar | rs148891849 |
| Map | rs148891849 |
| PheGenI | rs148891849 |
| Biobank | rs148891849 |
| 1000 genomes | rs148891849 |
| hgdp | rs148891849 |
| ensembl | rs148891849 |
| geneview | rs148891849 |
| scholar | rs148891849 |
| rs148891849 | |
| pharmgkb | rs148891849 |
| gwascentral | rs148891849 |
| openSNP | rs148891849 |
| 23andMe | rs148891849 |
| SNPshot | rs148891849 |
| SNPdbe | rs148891849 |
| MSV3d | rs148891849 |
| GWAS Ctlg | rs148891849 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148891849(A;A) rs148891849(C;C) |
| Alt | rs148891849(A;A) rs148891849(C;C) |
| Reference | Rs148891849(G;G) |
| Significance | Pathogenic |
| Disease | Primary ciliary dyskinesia not specified |
| Variation | info |
| Gene | DNAH5 |
| CLNDBN | Primary ciliary dyskinesia not specified |
| Reversed | 0 |
| HGVS | NC_000005.9:g.13842004G>A; NC_000005.9:g.13842004G>C |
| CLNSRC | |
| CLNACC | RCV000204721.1, RCV000242807.1, RCV000468797.1, |
