rs201082169
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Polycystic kidney disease |
| (A;G) | 3 | carrier of an autosomal recessive polycystic kidney disease mutation |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 51659952 |
| Gene | LOC105375087, PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201082169 |
| dbSNP (classic) | rs201082169 |
| ClinGen | rs201082169 |
| ebi | rs201082169 |
| HLI | rs201082169 |
| Exac | rs201082169 |
| Gnomad | rs201082169 |
| Varsome | rs201082169 |
| LitVar | rs201082169 |
| Map | rs201082169 |
| PheGenI | rs201082169 |
| Biobank | rs201082169 |
| 1000 genomes | rs201082169 |
| hgdp | rs201082169 |
| ensembl | rs201082169 |
| geneview | rs201082169 |
| scholar | rs201082169 |
| rs201082169 | |
| pharmgkb | rs201082169 |
| gwascentral | rs201082169 |
| openSNP | rs201082169 |
| 23andMe | rs201082169 |
| SNPshot | rs201082169 |
| SNPdbe | rs201082169 |
| MSV3d | rs201082169 |
| GWAS Ctlg | rs201082169 |
| Max Magnitude | 6 |
rs201082169, also known as c.10174C>T or p.Gln3392X, is a SNP in the PKHD1 gene on chromosome 6.
The risk allele, rs201082169(A), is considered causative for autosomal recessive Polycystic kidney disease.
This SNP is referred to as i5000046 and i6016608 by 23andMe.
