rs746972457
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;G) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
| (G;G) | 0 | common in clinvar |
| Make rs746972457(-;-) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 52026044 |
| Gene | PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs746972457 |
| dbSNP (classic) | rs746972457 |
| ClinGen | rs746972457 |
| ebi | rs746972457 |
| HLI | rs746972457 |
| Exac | rs746972457 |
| Gnomad | rs746972457 |
| Varsome | rs746972457 |
| LitVar | rs746972457 |
| Map | rs746972457 |
| PheGenI | rs746972457 |
| Biobank | rs746972457 |
| 1000 genomes | rs746972457 |
| hgdp | rs746972457 |
| ensembl | rs746972457 |
| geneview | rs746972457 |
| scholar | rs746972457 |
| rs746972457 | |
| pharmgkb | rs746972457 |
| gwascentral | rs746972457 |
| openSNP | rs746972457 |
| 23andMe | rs746972457 |
| SNPshot | rs746972457 |
| SNPdbe | rs746972457 |
| MSV3d | rs746972457 |
| GWAS Ctlg | rs746972457 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs746972457(-;-) |
| Alt | rs746972457(-;-) |
| Reference | Rs746972457(G;G) |
| Significance | Other |
| Disease | Autosomal recessive polycystic kidney disease |
| Variation | info |
| Gene | PKHD1 |
| CLNDBN | Autosomal recessive polycystic kidney disease |
| Reversed | 0 |
| HGVS | NC_000006.11:g.51890842delG |
| CLNSRC | |
| CLNACC | RCV000169060.2, |
