rs771180444
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TG) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
| (TG;TG) | 0 | common in clinvar |
| Make rs771180444(-;-) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 51959898 |
| Gene | PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs771180444 |
| dbSNP (classic) | rs771180444 |
| ClinGen | rs771180444 |
| ebi | rs771180444 |
| HLI | rs771180444 |
| Exac | rs771180444 |
| Gnomad | rs771180444 |
| Varsome | rs771180444 |
| LitVar | rs771180444 |
| Map | rs771180444 |
| PheGenI | rs771180444 |
| Biobank | rs771180444 |
| 1000 genomes | rs771180444 |
| hgdp | rs771180444 |
| ensembl | rs771180444 |
| geneview | rs771180444 |
| scholar | rs771180444 |
| rs771180444 | |
| pharmgkb | rs771180444 |
| gwascentral | rs771180444 |
| openSNP | rs771180444 |
| 23andMe | rs771180444 |
| SNPshot | rs771180444 |
| SNPdbe | rs771180444 |
| MSV3d | rs771180444 |
| GWAS Ctlg | rs771180444 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs771180444(-;-) |
| Alt | rs771180444(-;-) |
| Reference | Rs771180444(TG;TG) |
| Significance | Pathogenic |
| Disease | Autosomal recessive polycystic kidney disease |
| Variation | info |
| Gene | PKHD1 |
| CLNDBN | Autosomal recessive polycystic kidney disease |
| Reversed | 0 |
| HGVS | NC_000006.11:g.51824696_51824697delTG |
| CLNSRC | |
| CLNACC | RCV000177891.1, |
