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PKHD1

From SNPedia

is agene
is mentioned by
Full namepolycystic kidney and hepatic disease 1 (autosomal recessive)
EntrezGene5314
PheGenI5314
VariationViewer5314
ClinVarPKHD1
GeneCardsPKHD1
dbSNP5314
DiseasesPKHD1
SADR5314
HugeNav5314
wikipediaPKHD1
googlePKHD1
gopubmedPKHD1
EVSPKHD1
HEFalMpPKHD1
MyGene2PKHD1
23andMePKHD1
UniProtP08F94
EnsemblENSG00000170927
OMIM606702
# SNPs207
 Max MagnitudeChromosome positionSummary
i5000041
i5000042
i500004351,612,884
i500004451,910,980
i500004551,618,079
i500004651,524,750
i500004751,935,807
i5007344
i5007345
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
rs1020621286051,772,791
rs1049879251,801,833
rs1057516201051,748,665
rs1057516221051,887,158
rs1057516263052,025,216
rs1057516283052,033,167
rs1057516345051,659,417
rs1057516382052,025,253
rs1057516407051,960,028
rs1057516413051,748,142
rs1057516441051,903,683
... 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.