rs201881567
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| (A;C) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
| Make rs201881567(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 51883179 |
| Gene | PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201881567 |
| dbSNP (classic) | rs201881567 |
| ClinGen | rs201881567 |
| ebi | rs201881567 |
| HLI | rs201881567 |
| Exac | rs201881567 |
| Gnomad | rs201881567 |
| Varsome | rs201881567 |
| LitVar | rs201881567 |
| Map | rs201881567 |
| PheGenI | rs201881567 |
| Biobank | rs201881567 |
| 1000 genomes | rs201881567 |
| hgdp | rs201881567 |
| ensembl | rs201881567 |
| geneview | rs201881567 |
| scholar | rs201881567 |
| rs201881567 | |
| pharmgkb | rs201881567 |
| gwascentral | rs201881567 |
| openSNP | rs201881567 |
| 23andMe | rs201881567 |
| SNPshot | rs201881567 |
| SNPdbe | rs201881567 |
| MSV3d | rs201881567 |
| GWAS Ctlg | rs201881567 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs201881567(C;C) rs201881567(G;G) |
| Alt | rs201881567(C;C) rs201881567(G;G) |
| Reference | Rs201881567(A;A) |
| Significance | Unknown |
| Disease | Autosomal recessive polycystic kidney disease |
| Variation | info |
| Gene | PKHD1 |
| CLNDBN | Autosomal recessive polycystic kidney disease |
| Reversed | 0 |
| HGVS | NC_000006.11:g.51747977A>C |
| CLNSRC | |
| CLNACC | RCV000457585.1, |
