rs770461067
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;A) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
| (A;A) | 0 | common/normal |
| Make rs770461067(-;-) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 51659489 |
| Gene | LOC105375087, PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770461067 |
| dbSNP (classic) | rs770461067 |
| ClinGen | rs770461067 |
| ebi | rs770461067 |
| HLI | rs770461067 |
| Exac | rs770461067 |
| Gnomad | rs770461067 |
| Varsome | rs770461067 |
| LitVar | rs770461067 |
| Map | rs770461067 |
| PheGenI | rs770461067 |
| Biobank | rs770461067 |
| 1000 genomes | rs770461067 |
| hgdp | rs770461067 |
| ensembl | rs770461067 |
| geneview | rs770461067 |
| scholar | rs770461067 |
| rs770461067 | |
| pharmgkb | rs770461067 |
| gwascentral | rs770461067 |
| openSNP | rs770461067 |
| 23andMe | rs770461067 |
| SNPshot | rs770461067 |
| SNPdbe | rs770461067 |
| MSV3d | rs770461067 |
| GWAS Ctlg | rs770461067 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs770461067(-;-) |
| Alt | rs770461067(-;-) |
| Reference | Rs770461067(A;A) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PKHD1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000006.11:g.51524287delA |
| CLNSRC | |
| CLNACC | RCV000308290.1, |
