rs781368899
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
| (G;G) | 0 | common in clinvar |
| Make rs781368899(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 51659907 |
| Gene | LOC105375087, PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs781368899 |
| dbSNP (classic) | rs781368899 |
| ClinGen | rs781368899 |
| ebi | rs781368899 |
| HLI | rs781368899 |
| Exac | rs781368899 |
| Gnomad | rs781368899 |
| Varsome | rs781368899 |
| LitVar | rs781368899 |
| Map | rs781368899 |
| PheGenI | rs781368899 |
| Biobank | rs781368899 |
| 1000 genomes | rs781368899 |
| hgdp | rs781368899 |
| ensembl | rs781368899 |
| geneview | rs781368899 |
| scholar | rs781368899 |
| rs781368899 | |
| pharmgkb | rs781368899 |
| gwascentral | rs781368899 |
| openSNP | rs781368899 |
| 23andMe | rs781368899 |
| SNPshot | rs781368899 |
| SNPdbe | rs781368899 |
| MSV3d | rs781368899 |
| GWAS Ctlg | rs781368899 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs781368899(A;A) |
| Alt | rs781368899(A;A) |
| Reference | Rs781368899(G;G) |
| 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.51524705G>A |
| CLNSRC | |
| CLNACC | RCV000179595.1, |
