rs339445
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (C;C) | 0 | common in complete genomics |
| Make rs339445(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 13944403 |
| Gene | DNAH5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs339445 |
| dbSNP (classic) | rs339445 |
| ClinGen | rs339445 |
| ebi | rs339445 |
| HLI | rs339445 |
| Exac | rs339445 |
| Gnomad | rs339445 |
| Varsome | rs339445 |
| LitVar | rs339445 |
| Map | rs339445 |
| PheGenI | rs339445 |
| Biobank | rs339445 |
| 1000 genomes | rs339445 |
| hgdp | rs339445 |
| ensembl | rs339445 |
| geneview | rs339445 |
| scholar | rs339445 |
| rs339445 | |
| pharmgkb | rs339445 |
| gwascentral | rs339445 |
| openSNP | rs339445 |
| 23andMe | rs339445 |
| SNPshot | rs339445 |
| SNPdbe | rs339445 |
| MSV3d | rs339445 |
| GWAS Ctlg | rs339445 |
| GMAF | 0.08494 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs339445(C;C) |
| Alt | Rs339445(C;C) |
| Reference | Rs339445(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Primary ciliary dyskinesia |
| Variation | info |
| Gene | DNAH5 |
| CLNDBN | not specified Primary ciliary dyskinesia |
| Reversed | 0 |
| HGVS | NC_000005.9:g.13944512A>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000155520.2, RCV000303227.1, |
