rs786204696
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
| (T;T) | 0 | common in clinvar |
| Make rs786204696(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 6 |
| Position | 52054122 |
| Gene | PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204696 |
| dbSNP (classic) | rs786204696 |
| ClinGen | rs786204696 |
| ebi | rs786204696 |
| HLI | rs786204696 |
| Exac | rs786204696 |
| Gnomad | rs786204696 |
| Varsome | rs786204696 |
| LitVar | rs786204696 |
| Map | rs786204696 |
| PheGenI | rs786204696 |
| Biobank | rs786204696 |
| 1000 genomes | rs786204696 |
| hgdp | rs786204696 |
| ensembl | rs786204696 |
| geneview | rs786204696 |
| scholar | rs786204696 |
| rs786204696 | |
| pharmgkb | rs786204696 |
| gwascentral | rs786204696 |
| openSNP | rs786204696 |
| 23andMe | rs786204696 |
| SNPshot | rs786204696 |
| SNPdbe | rs786204696 |
| MSV3d | rs786204696 |
| GWAS Ctlg | rs786204696 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs786204696(A;A) |
| Alt | rs786204696(A;A) |
| Reference | Rs786204696(T;T) |
| Significance | Pathogenic |
| Disease | Autosomal recessive polycystic kidney disease |
| Variation | info |
| Gene | PKHD1 |
| CLNDBN | Autosomal recessive polycystic kidney disease |
| Reversed | 1 |
| HGVS | NC_000006.11:g.51918920A>T |
| CLNSRC | |
| CLNACC | RCV000169507.1, |
