rs730880377
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs730880377(C;T) |
| Make rs730880377(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 123370950 |
| Gene | CRB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880377 |
| dbSNP (classic) | rs730880377 |
| ClinGen | rs730880377 |
| ebi | rs730880377 |
| HLI | rs730880377 |
| Exac | rs730880377 |
| Gnomad | rs730880377 |
| Varsome | rs730880377 |
| LitVar | rs730880377 |
| Map | rs730880377 |
| PheGenI | rs730880377 |
| Biobank | rs730880377 |
| 1000 genomes | rs730880377 |
| hgdp | rs730880377 |
| ensembl | rs730880377 |
| geneview | rs730880377 |
| scholar | rs730880377 |
| rs730880377 | |
| pharmgkb | rs730880377 |
| gwascentral | rs730880377 |
| openSNP | rs730880377 |
| 23andMe | rs730880377 |
| SNPshot | rs730880377 |
| SNPdbe | rs730880377 |
| MSV3d | rs730880377 |
| GWAS Ctlg | rs730880377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs730880377(T;T) |
| Alt | rs730880377(T;T) |
| Reference | Rs730880377(C;C) |
| Significance | Pathogenic |
| Disease | Ventriculomegaly with cystic kidney disease |
| Variation | info |
| Gene | CRB2 |
| CLNDBN | Ventriculomegaly with cystic kidney disease |
| Reversed | 0 |
| HGVS | NC_000009.11:g.126133229C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000157662.3, |
