rs770519542
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 5 | Polycystic Kidney Disease (predicted) |
| (C;C) | 0 | common in clinvar |
| Make rs770519542(C;T) |
| Make rs770519542(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 62630788 |
| Gene | GANAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770519542 |
| dbSNP (classic) | rs770519542 |
| ClinGen | rs770519542 |
| ebi | rs770519542 |
| HLI | rs770519542 |
| Exac | rs770519542 |
| Gnomad | rs770519542 |
| Varsome | rs770519542 |
| LitVar | rs770519542 |
| Map | rs770519542 |
| PheGenI | rs770519542 |
| Biobank | rs770519542 |
| 1000 genomes | rs770519542 |
| hgdp | rs770519542 |
| ensembl | rs770519542 |
| geneview | rs770519542 |
| scholar | rs770519542 |
| rs770519542 | |
| pharmgkb | rs770519542 |
| gwascentral | rs770519542 |
| openSNP | rs770519542 |
| 23andMe | rs770519542 |
| SNPshot | rs770519542 |
| SNPdbe | rs770519542 |
| MSV3d | rs770519542 |
| GWAS Ctlg | rs770519542 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs770519542(A;A) rs770519542(T;T) |
| Alt | rs770519542(A;A) rs770519542(T;T) |
| Reference | Rs770519542(C;C) |
| Significance | Pathogenic |
| Disease | Polycystic kidney disease 3 |
| Variation | info |
| Gene | GANAB |
| CLNDBN | Polycystic kidney disease 3 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.62398260C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000239504.1, |
