rs776528706
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| Make rs776528706(-;CTT) |
| Make rs776528706(CTT;CTT) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 13 |
| Position | 24884443 |
| Gene | CENPJ, RNF17 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs776528706 |
| dbSNP (classic) | rs776528706 |
| ClinGen | rs776528706 |
| ebi | rs776528706 |
| HLI | rs776528706 |
| Exac | rs776528706 |
| Gnomad | rs776528706 |
| Varsome | rs776528706 |
| LitVar | rs776528706 |
| Map | rs776528706 |
| PheGenI | rs776528706 |
| Biobank | rs776528706 |
| 1000 genomes | rs776528706 |
| hgdp | rs776528706 |
| ensembl | rs776528706 |
| geneview | rs776528706 |
| scholar | rs776528706 |
| rs776528706 | |
| pharmgkb | rs776528706 |
| gwascentral | rs776528706 |
| openSNP | rs776528706 |
| 23andMe | rs776528706 |
| SNPshot | rs776528706 |
| SNPdbe | rs776528706 |
| MSV3d | rs776528706 |
| GWAS Ctlg | rs776528706 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs776528706(TTC;TTC) |
| Alt | rs776528706(TTC;TTC) |
| Reference | Rs776528706(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Seckel syndrome 4 |
| Variation | info |
| Gene | CENPJ |
| CLNDBN | Seckel syndrome 4 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.25458582_25458584dupTTC |
| CLNSRC | |
| CLNACC | RCV000192678.1, |
