rs121918042
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Polycystic kidney disease, autosomal dominant form (predicted) |
| Make rs121918042(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 88046712 |
| Gene | PKD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918042 |
| dbSNP (classic) | rs121918042 |
| ClinGen | rs121918042 |
| ebi | rs121918042 |
| HLI | rs121918042 |
| Exac | rs121918042 |
| Gnomad | rs121918042 |
| Varsome | rs121918042 |
| LitVar | rs121918042 |
| Map | rs121918042 |
| PheGenI | rs121918042 |
| Biobank | rs121918042 |
| 1000 genomes | rs121918042 |
| hgdp | rs121918042 |
| ensembl | rs121918042 |
| geneview | rs121918042 |
| scholar | rs121918042 |
| rs121918042 | |
| pharmgkb | rs121918042 |
| gwascentral | rs121918042 |
| openSNP | rs121918042 |
| 23andMe | rs121918042 |
| SNPshot | rs121918042 |
| SNPdbe | rs121918042 |
| MSV3d | rs121918042 |
| GWAS Ctlg | rs121918042 |
| Max Magnitude | 5 |
aka c.1390C>T (p.Arg464Ter)
23andMe name: i5002464
| ClinVar | |
|---|---|
| Risk | rs121918042(T;T) |
| Alt | rs121918042(T;T) |
| Reference | Rs121918042(C;C) |
| Significance | Pathogenic |
| Disease | Polycystic kidney disease 2 |
| Variation | info |
| Gene | PKD2 |
| CLNDBN | Polycystic kidney disease 2 |
| Reversed | 0 |
| HGVS | NC_000004.11:g.88967864C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014476.27, |
