rs748618094
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs748618094(A;A) |
| Make rs748618094(A;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 13841058 |
| Gene | DNAH5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748618094 |
| dbSNP (classic) | rs748618094 |
| ClinGen | rs748618094 |
| ebi | rs748618094 |
| HLI | rs748618094 |
| Exac | rs748618094 |
| Gnomad | rs748618094 |
| Varsome | rs748618094 |
| LitVar | rs748618094 |
| Map | rs748618094 |
| PheGenI | rs748618094 |
| Biobank | rs748618094 |
| 1000 genomes | rs748618094 |
| hgdp | rs748618094 |
| ensembl | rs748618094 |
| geneview | rs748618094 |
| scholar | rs748618094 |
| rs748618094 | |
| pharmgkb | rs748618094 |
| gwascentral | rs748618094 |
| openSNP | rs748618094 |
| 23andMe | rs748618094 |
| SNPshot | rs748618094 |
| SNPdbe | rs748618094 |
| MSV3d | rs748618094 |
| GWAS Ctlg | rs748618094 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs748618094(A;A) |
| Alt | rs748618094(A;A) |
| Reference | Rs748618094(T;T) |
| Significance | Pathogenic |
| Disease | Primary ciliary dyskinesia |
| Variation | info |
| Gene | DNAH5 |
| CLNDBN | Primary ciliary dyskinesia |
| Reversed | 0 |
| HGVS | NC_000005.9:g.13841167T>A |
| CLNSRC | |
| CLNACC | RCV000203745.1, |
