rs727502971
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CAGA;CAGA) | 0 | common in clinvar |
| Make rs727502971(-;-) |
| Make rs727502971(-;CAGA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 5 |
| Position | 13708264 |
| Gene | DNAH5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727502971 |
| dbSNP (classic) | rs727502971 |
| ClinGen | rs727502971 |
| ebi | rs727502971 |
| HLI | rs727502971 |
| Exac | rs727502971 |
| Gnomad | rs727502971 |
| Varsome | rs727502971 |
| LitVar | rs727502971 |
| Map | rs727502971 |
| PheGenI | rs727502971 |
| Biobank | rs727502971 |
| 1000 genomes | rs727502971 |
| hgdp | rs727502971 |
| ensembl | rs727502971 |
| geneview | rs727502971 |
| scholar | rs727502971 |
| rs727502971 | |
| pharmgkb | rs727502971 |
| gwascentral | rs727502971 |
| openSNP | rs727502971 |
| 23andMe | rs727502971 |
| SNPshot | rs727502971 |
| SNPdbe | rs727502971 |
| MSV3d | rs727502971 |
| GWAS Ctlg | rs727502971 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727502971(-;-) |
| Alt | rs727502971(-;-) |
| Reference | Rs727502971(CAGA;CAGA) |
| Significance | Probable-Pathogenic |
| Disease | Primary ciliary dyskinesia |
| Variation | info |
| Gene | DNAH5 |
| CLNDBN | Primary ciliary dyskinesia |
| Reversed | 1 |
| HGVS | NC_000005.9:g.13708373_13708376delTCTG |
| CLNSRC | |
| CLNACC | RCV000150465.1, |
