rs760222236
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| (A;G) | 3 | carrier of an autosomal recessive polycystic kidney disease mutation |
| (G;G) | 6 | Polycystic kidney disease |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 51753281 |
| Gene | PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760222236 |
| dbSNP (classic) | rs760222236 |
| ClinGen | rs760222236 |
| ebi | rs760222236 |
| HLI | rs760222236 |
| Exac | rs760222236 |
| Gnomad | rs760222236 |
| Varsome | rs760222236 |
| LitVar | rs760222236 |
| Map | rs760222236 |
| PheGenI | rs760222236 |
| Biobank | rs760222236 |
| 1000 genomes | rs760222236 |
| hgdp | rs760222236 |
| ensembl | rs760222236 |
| geneview | rs760222236 |
| scholar | rs760222236 |
| rs760222236 | |
| pharmgkb | rs760222236 |
| gwascentral | rs760222236 |
| openSNP | rs760222236 |
| 23andMe | rs760222236 |
| SNPshot | rs760222236 |
| SNPdbe | rs760222236 |
| MSV3d | rs760222236 |
| GWAS Ctlg | rs760222236 |
| Max Magnitude | 6 |
rs760222236, also known as c.8870T>C, I2957T or p.Ile2957Thr, is a mutation in the PKHD1 gene, associated with polycystic kidney disease.
The rare rs760222236(G) allele when inherited in two copies or as a compound heterozygote leads to the disease.[PMID 19914852
]
This SNP is referred to as i5000045 and i6016633 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs760222236(G;G) |
| Alt | Rs760222236(G;G) |
| Reference | Rs760222236(A;A) |
| 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.51618079A>G |
| CLNSRC | |
| CLNACC | RCV000390646.1, |
