rs863225177
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AAG;AAG) | 0 | common in clinvar |
| Make rs863225177(-;-) |
| Make rs863225177(-;AGA) |
| Make rs863225177(AGA;AGA) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 4 |
| Position | 15533229 |
| Gene | CC2D2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863225177 |
| dbSNP (classic) | rs863225177 |
| ClinGen | rs863225177 |
| ebi | rs863225177 |
| HLI | rs863225177 |
| Exac | rs863225177 |
| Gnomad | rs863225177 |
| Varsome | rs863225177 |
| LitVar | rs863225177 |
| Map | rs863225177 |
| PheGenI | rs863225177 |
| Biobank | rs863225177 |
| 1000 genomes | rs863225177 |
| hgdp | rs863225177 |
| ensembl | rs863225177 |
| geneview | rs863225177 |
| scholar | rs863225177 |
| rs863225177 | |
| pharmgkb | rs863225177 |
| gwascentral | rs863225177 |
| openSNP | rs863225177 |
| 23andMe | rs863225177 |
| SNPshot | rs863225177 |
| SNPdbe | rs863225177 |
| MSV3d | rs863225177 |
| GWAS Ctlg | rs863225177 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs863225177(-;-) |
| Alt | rs863225177(-;-) |
| Reference | Rs863225177(AAG;AAG) |
| Significance | Pathogenic |
| Disease | Joubert syndrome 9 |
| Variation | info |
| Gene | CC2D2A |
| CLNDBN | Joubert syndrome 9 |
| Reversed | 0 |
| HGVS | NC_000004.11:g.15534852_15534854delAGA |
| CLNSRC | |
| CLNACC | RCV000201543.1, |
