rs777183511
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
| (T;T) | 0 | common/normal |
| Make rs777183511(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 52050167 |
| Gene | PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs777183511 |
| dbSNP (classic) | rs777183511 |
| ClinGen | rs777183511 |
| ebi | rs777183511 |
| HLI | rs777183511 |
| Exac | rs777183511 |
| Gnomad | rs777183511 |
| Varsome | rs777183511 |
| LitVar | rs777183511 |
| Map | rs777183511 |
| PheGenI | rs777183511 |
| Biobank | rs777183511 |
| 1000 genomes | rs777183511 |
| hgdp | rs777183511 |
| ensembl | rs777183511 |
| geneview | rs777183511 |
| scholar | rs777183511 |
| rs777183511 | |
| pharmgkb | rs777183511 |
| gwascentral | rs777183511 |
| openSNP | rs777183511 |
| 23andMe | rs777183511 |
| SNPshot | rs777183511 |
| SNPdbe | rs777183511 |
| MSV3d | rs777183511 |
| GWAS Ctlg | rs777183511 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs777183511(C;C) rs777183511(G;G) |
| Alt | rs777183511(C;C) rs777183511(G;G) |
| Reference | Rs777183511(T;T) |
| Significance | Unknown |
| Disease | Autosomal recessive polycystic kidney disease not specified |
| Variation | info |
| Gene | PKHD1 |
| CLNDBN | Autosomal recessive polycystic kidney disease not specified |
| Reversed | 0 |
| HGVS | NC_000006.11:g.51914965T>C; NC_000006.11:g.51914965T>G |
| CLNSRC | |
| CLNACC | RCV000472049.1, RCV000288236.1, RCV000317551.1, |
