rs781702398
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs781702398(A;A) |
| Make rs781702398(A;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 64788968 |
| Gene | CWC27 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs781702398 |
| dbSNP (classic) | rs781702398 |
| ClinGen | rs781702398 |
| ebi | rs781702398 |
| HLI | rs781702398 |
| Exac | rs781702398 |
| Gnomad | rs781702398 |
| Varsome | rs781702398 |
| LitVar | rs781702398 |
| Map | rs781702398 |
| PheGenI | rs781702398 |
| Biobank | rs781702398 |
| 1000 genomes | rs781702398 |
| hgdp | rs781702398 |
| ensembl | rs781702398 |
| geneview | rs781702398 |
| scholar | rs781702398 |
| rs781702398 | |
| pharmgkb | rs781702398 |
| gwascentral | rs781702398 |
| openSNP | rs781702398 |
| 23andMe | rs781702398 |
| SNPshot | rs781702398 |
| SNPdbe | rs781702398 |
| MSV3d | rs781702398 |
| GWAS Ctlg | rs781702398 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs781702398(A;A) |
| Alt | rs781702398(A;A) |
| Reference | Rs781702398(C;C) |
| Significance | Pathogenic |
| Disease | Retinitis pigmentosa with or without skeletal anomalies |
| Variation | info |
| Gene | CWC27 |
| CLNDBN | Retinitis pigmentosa with or without skeletal anomalies |
| Reversed | 0 |
| HGVS | NC_000005.9:g.64084795C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000488878.1, |
