rs398122932
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;AGG) | 5 | Polycystic kidney disease, autosomal dominant form (predicted) |
| (-;GAG) | 5 | Polycystic kidney disease, autosomal dominant form (predicted) |
| Make rs398122932(GAG;GAG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 88008038 |
| Gene | LOC105377325, PKD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398122932 |
| dbSNP (classic) | rs398122932 |
| ClinGen | rs398122932 |
| ebi | rs398122932 |
| HLI | rs398122932 |
| Exac | rs398122932 |
| Gnomad | rs398122932 |
| Varsome | rs398122932 |
| LitVar | rs398122932 |
| Map | rs398122932 |
| PheGenI | rs398122932 |
| Biobank | rs398122932 |
| 1000 genomes | rs398122932 |
| hgdp | rs398122932 |
| ensembl | rs398122932 |
| geneview | rs398122932 |
| scholar | rs398122932 |
| rs398122932 | |
| pharmgkb | rs398122932 |
| gwascentral | rs398122932 |
| openSNP | rs398122932 |
| 23andMe | rs398122932 |
| SNPshot | rs398122932 |
| SNPdbe | rs398122932 |
| MSV3d | rs398122932 |
| GWAS Ctlg | rs398122932 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs398122932(GAG;GAG) |
| Alt | rs398122932(GAG;GAG) |
| Reference | Rs398122932(-;-) |
| Significance | Pathogenic |
| Disease | Polycystic kidney disease 2 |
| Variation | info |
| Gene | PKD2 |
| CLNDBN | Polycystic kidney disease 2 |
| Reversed | 0 |
| HGVS | NC_000004.11:g.88929190_88929191insGAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000033173.26, |
