PKHD1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | polycystic kidney and hepatic disease 1 (autosomal recessive) |
| EntrezGene | 5314 |
| PheGenI | 5314 |
| VariationViewer | 5314 |
| ClinVar | PKHD1 |
| GeneCards | PKHD1 |
| dbSNP | 5314 |
| Diseases | PKHD1 |
| SADR | 5314 |
| HugeNav | 5314 |
| wikipedia | PKHD1 |
| PKHD1 | |
| gopubmed | PKHD1 |
| EVS | PKHD1 |
| HEFalMp | PKHD1 |
| MyGene2 | PKHD1 |
| 23andMe | PKHD1 |
| UniProt | P08F94 |
| Ensembl | ENSG00000170927 |
| OMIM | 606702 |
| # SNPs | 205 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5000041 | |||
| i5000043 | 51,612,884 | ||
| i5000044 | 51,910,980 | ||
| i5000045 | 51,618,079 | ||
| i5000046 | 51,524,750 | ||
| i5000047 | 51,935,807 | ||
| i5007344 | |||
| i5012609 | |||
| i5012610 | |||
| i5012611 | |||
| i5012612 | |||
| i5900581 | |||
| i6016603 | |||
| i6016614 | |||
| i6016629 | |||
| i6016638 | |||
| i6016642 | |||
| i6016643 | |||
| i6016654 | |||
| i6016673 | |||
| i6016687 | |||
| i6016690 | |||
| i6016692 | |||
| i6016699 | |||
| i6016706 | |||
| i6016707 | |||
| i6016714 | |||
| i6016719 | |||
| i6016737 | |||
| i6016785 | |||
| i6016787 | |||
| i6016800 | |||
| i6016808 | |||
| i6016815 | |||
| i6016818 | |||
| i6016828 | |||
| i6016851 | |||
| rs1020621286 | 0 | 51,772,791 | |
| rs10498792 | 0 | 51,801,833 | |
| rs1057516201 | 0 | 51,748,665 | |
| rs1057516221 | 0 | 51,887,158 | |
| rs1057516263 | 0 | 52,025,216 | |
| rs1057516283 | 0 | 52,033,167 | |
| rs1057516345 | 0 | 51,659,417 | |
| rs1057516382 | 0 | 52,025,253 | |
| rs1057516407 | 0 | 51,960,028 | |
| rs1057516413 | 0 | 51,748,142 | |
| rs1057516441 | 0 | 51,903,683 | |
| rs1057516445 | 0 | 51,747,933 | |
| rs1057516490 | 0 | 51,847,832 | |
| ... further results | |||
The PKHD1 gene on chromosome 6 encodes fibrocystin, a large, receptor-like protein thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium.Wikipedia
Numerous mutations in the PKHD1 gene can lead to autosomal recessive polycystic kidney disease; for a table listing many of them, head to that page.
