rs200179145
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 3 | carrier of an autosomal recessive polycystic kidney disease mutation |
| (T;T) | 6 | Polycystic kidney disease |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 51903601 |
| Gene | PKHD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200179145 |
| dbSNP (classic) | rs200179145 |
| ClinGen | rs200179145 |
| ebi | rs200179145 |
| HLI | rs200179145 |
| Exac | rs200179145 |
| Gnomad | rs200179145 |
| Varsome | rs200179145 |
| LitVar | rs200179145 |
| Map | rs200179145 |
| PheGenI | rs200179145 |
| Biobank | rs200179145 |
| 1000 genomes | rs200179145 |
| hgdp | rs200179145 |
| ensembl | rs200179145 |
| geneview | rs200179145 |
| scholar | rs200179145 |
| rs200179145 | |
| pharmgkb | rs200179145 |
| gwascentral | rs200179145 |
| openSNP | rs200179145 |
| 23andMe | rs200179145 |
| SNPshot | rs200179145 |
| SNPdbe | rs200179145 |
| MSV3d | rs200179145 |
| GWAS Ctlg | rs200179145 |
| Max Magnitude | 6 |
rs200179145, also known as c.6992T>A, p.Ile2331Lys or I2331K, is a SNP in the PKHD1 gene on chromosome 6.
The risk allele, rs200179145(A), is considered causative for autosomal recessive Polycystic kidney disease.
This SNP is referred to as i6016629 by 23andMe.
| ClinVar | |
|---|---|
| Risk | rs200179145(G;G) Rs200179145(T;T) |
| Alt | rs200179145(G;G) Rs200179145(T;T) |
| Reference | Rs200179145(A;A) |
| Significance | Other |
| Disease | Autosomal recessive polycystic kidney disease not provided |
| Variation | info |
| Gene | PKHD1 |
| CLNDBN | Autosomal recessive polycystic kidney disease not provided |
| Reversed | 0 |
| HGVS | NC_000006.11:g.51768399A>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169149.2, RCV000494184.1, |
