rs777686211
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs777686211(-;-) |
| Make rs777686211(-;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 37226776 |
| Gene | C5orf42 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs777686211 |
| dbSNP (classic) | rs777686211 |
| ClinGen | rs777686211 |
| ebi | rs777686211 |
| HLI | rs777686211 |
| Exac | rs777686211 |
| Gnomad | rs777686211 |
| Varsome | rs777686211 |
| LitVar | rs777686211 |
| Map | rs777686211 |
| PheGenI | rs777686211 |
| Biobank | rs777686211 |
| 1000 genomes | rs777686211 |
| hgdp | rs777686211 |
| ensembl | rs777686211 |
| geneview | rs777686211 |
| scholar | rs777686211 |
| rs777686211 | |
| pharmgkb | rs777686211 |
| gwascentral | rs777686211 |
| openSNP | rs777686211 |
| 23andMe | rs777686211 |
| SNPshot | rs777686211 |
| SNPdbe | rs777686211 |
| MSV3d | rs777686211 |
| GWAS Ctlg | rs777686211 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs777686211(-;-) |
| Alt | rs777686211(-;-) |
| Reference | Rs777686211(A;A) |
| Significance | Pathogenic |
| Disease | Joubert syndrome 17 not provided Global developmental delay Jaundice |
| Variation | info |
| Gene | C5orf42 |
| CLNDBN | Joubert syndrome 17 not provided Global developmental delay Jaundice |
| Reversed | 0 |
| HGVS | NC_000005.9:g.37226878delA |
| CLNSRC | |
| CLNACC | RCV000201783.1, RCV000313670.2, RCV000414845.1, |
