rs138815960
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs138815960(A;C) |
| Make rs138815960(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 50345533 |
| Gene | ZMYND10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138815960 |
| dbSNP (classic) | rs138815960 |
| ClinGen | rs138815960 |
| ebi | rs138815960 |
| HLI | rs138815960 |
| Exac | rs138815960 |
| Gnomad | rs138815960 |
| Varsome | rs138815960 |
| LitVar | rs138815960 |
| Map | rs138815960 |
| PheGenI | rs138815960 |
| Biobank | rs138815960 |
| 1000 genomes | rs138815960 |
| hgdp | rs138815960 |
| ensembl | rs138815960 |
| geneview | rs138815960 |
| scholar | rs138815960 |
| rs138815960 | |
| pharmgkb | rs138815960 |
| gwascentral | rs138815960 |
| openSNP | rs138815960 |
| 23andMe | rs138815960 |
| SNPshot | rs138815960 |
| SNPdbe | rs138815960 |
| MSV3d | rs138815960 |
| GWAS Ctlg | rs138815960 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138815960(C;C) |
| Alt | rs138815960(C;C) |
| Reference | Rs138815960(A;A) |
| Significance | Pathogenic |
| Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia |
| Variation | info |
| Gene | ZMYND10 |
| CLNDBN | Ciliary dyskinesia, primary, 22 Kartagener syndrome Primary ciliary dyskinesia |
| Reversed | 0 |
| HGVS | NC_000003.11:g.50382964A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000056264.3, RCV000190919.1, RCV000459281.1, |
