rs200913791
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs200913791(A;G) |
| Make rs200913791(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 50342473 |
| Gene | RASSF1, ZMYND10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200913791 |
| dbSNP (classic) | rs200913791 |
| ClinGen | rs200913791 |
| ebi | rs200913791 |
| HLI | rs200913791 |
| Exac | rs200913791 |
| Gnomad | rs200913791 |
| Varsome | rs200913791 |
| LitVar | rs200913791 |
| Map | rs200913791 |
| PheGenI | rs200913791 |
| Biobank | rs200913791 |
| 1000 genomes | rs200913791 |
| hgdp | rs200913791 |
| ensembl | rs200913791 |
| geneview | rs200913791 |
| scholar | rs200913791 |
| rs200913791 | |
| pharmgkb | rs200913791 |
| gwascentral | rs200913791 |
| openSNP | rs200913791 |
| 23andMe | rs200913791 |
| SNPshot | rs200913791 |
| SNPdbe | rs200913791 |
| MSV3d | rs200913791 |
| GWAS Ctlg | rs200913791 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200913791(G;G) |
| Alt | rs200913791(G;G) |
| Reference | Rs200913791(A;A) |
| Significance | Pathogenic |
| Disease | Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia |
| Variation | info |
| Gene | ZMYND10 RASSF1 |
| CLNDBN | Ciliary dyskinesia, primary, 22 Kartagener syndrome Primary ciliary dyskinesia |
| Reversed | 0 |
| HGVS | NC_000003.11:g.50379904A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000056269.3, RCV000190920.1, RCV000468778.1, |
