rs773136605
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
| Make rs773136605(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 52043102 |
| Gene | PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773136605 |
| dbSNP (classic) | rs773136605 |
| ClinGen | rs773136605 |
| ebi | rs773136605 |
| HLI | rs773136605 |
| Exac | rs773136605 |
| Gnomad | rs773136605 |
| Varsome | rs773136605 |
| LitVar | rs773136605 |
| Map | rs773136605 |
| PheGenI | rs773136605 |
| Biobank | rs773136605 |
| 1000 genomes | rs773136605 |
| hgdp | rs773136605 |
| ensembl | rs773136605 |
| geneview | rs773136605 |
| scholar | rs773136605 |
| rs773136605 | |
| pharmgkb | rs773136605 |
| gwascentral | rs773136605 |
| openSNP | rs773136605 |
| 23andMe | rs773136605 |
| SNPshot | rs773136605 |
| SNPdbe | rs773136605 |
| MSV3d | rs773136605 |
| GWAS Ctlg | rs773136605 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs773136605(T;T) |
| Alt | rs773136605(T;T) |
| Reference | Rs773136605(C;C) |
| 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.51907900C>T |
| CLNSRC | |
| CLNACC | RCV000176777.1, |
