rs368260932
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs368260932(C;T) |
| Make rs368260932(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 21749702 |
| Gene | DNAH11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368260932 |
| dbSNP (classic) | rs368260932 |
| ClinGen | rs368260932 |
| ebi | rs368260932 |
| HLI | rs368260932 |
| Exac | rs368260932 |
| Gnomad | rs368260932 |
| Varsome | rs368260932 |
| LitVar | rs368260932 |
| Map | rs368260932 |
| PheGenI | rs368260932 |
| Biobank | rs368260932 |
| 1000 genomes | rs368260932 |
| hgdp | rs368260932 |
| ensembl | rs368260932 |
| geneview | rs368260932 |
| scholar | rs368260932 |
| rs368260932 | |
| pharmgkb | rs368260932 |
| gwascentral | rs368260932 |
| openSNP | rs368260932 |
| 23andMe | rs368260932 |
| SNPshot | rs368260932 |
| SNPdbe | rs368260932 |
| MSV3d | rs368260932 |
| GWAS Ctlg | rs368260932 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs368260932(T;T) |
| Alt | rs368260932(T;T) |
| Reference | Rs368260932(C;C) |
| Significance | Pathogenic |
| Disease | Ciliary dyskinesia Primary ciliary dyskinesia |
| Variation | info |
| Gene | DNAH11 |
| CLNDBN | Ciliary dyskinesia, primary, 7 Primary ciliary dyskinesia |
| Reversed | 0 |
| HGVS | NC_000007.13:g.21789320C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000030676.3, RCV000230314.1, |
