Gene entry
PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
- Chromosome
- 6
- Cytoband
- 6p12.3-p12.2
- Variants (rsID)
- 150
PKHD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p12.3-p12.2). Its official name is “PKHD1 ciliary IPT domain containing fibrocystin/polyductin”. The reference table lists 150 variants (rsID) for this gene.
Clinically classified variants
70 reference-table entries with clinical significance.
- rs113034899Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs12523900Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs1266889Benignsingle nucleotide variantPolycystic kidney disease 4|Autosomal recessive polycystic kidney disease
- rs139014478Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease
- rs141384205Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs142522748Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease|Caroli disease
- rs182468850Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs2397060Benignsingle nucleotide variantPolycystic kidney disease 4|Autosomal recessive polycystic kidney disease
- rs2784198Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs34548196Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs45500692Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease|Polycystic kidney disease 4
- rs4715227Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease|Polycystic kidney disease 4
- rs76895755Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs9381994Benignsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease|Polycystic kidney disease 4
- rs9395699Benignsingle nucleotide variantPolycystic kidney disease 4|Autosomal recessive polycystic kidney disease
- rs114237522Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs137852946Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4|Kidney disease
- rs137852948Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Inborn genetic diseases
- rs137925439Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs138388301Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs139306706Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs139815340Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs140065359Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease
- rs141081295Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs141103838Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs141360909Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs141622697Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs143737660Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs143979330Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease
- rs146519878Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease|Autosomal dominant polycystic liver disease
- rs146649803Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs147851214Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs148335285Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs188914598Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs199531851Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs200391019Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Abnormality of the intrahepatic bile duct|Polycystic kidney disease|Caroli disease|Polycystic kidney disease 4|Autosomal dominant polycystic liver disease
- rs200511261Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs201753421Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs34796823Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs371510537Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs41273722Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs41273726Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease|Polycystic kidney disease 4|Caroli disease
- rs45627337Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease|Autosomal dominant polycystic liver disease
- rs551015414Conflicting interpretationsDeletionAutosomal recessive polycystic kidney disease
- rs746972457Conflicting interpretationsDeletionAutosomal recessive polycystic kidney disease|Autosomal dominant polycystic liver disease|Polycystic kidney disease 4
- rs755688912Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs765526Conflicting interpretationssingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs141811489Likely benignsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs41273718Likely benignsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs1240212722Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs137852944Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Colorectal cancer, protection against|Polycystic kidney disease|Oligohydramnios|Periportal fibrosis|Polycystic kidney disease|Autosomal dominant polycystic liver disease|Polycystic kidney disease 4|Kidney disease
- rs137852947Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs137852949Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Autosomal dominant polycystic liver disease
- rs137852950Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs148617572Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs200179145Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease|Polycystic kidney disease 4
- rs28937907Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs368263958Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs369925690Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs398124502PathogenicDeletionAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs746838237PathogenicDuplicationAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs748365248Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs754392766Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease
- rs760222236Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease
- rs773136605Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4|Autosomal dominant polycystic liver disease
- rs778537772PathogenicDeletionAutosomal recessive polycystic kidney disease
- rs786204588PathogenicDeletionAutosomal recessive polycystic kidney disease
- rs794727566Pathogenicsingle nucleotide variantAutosomal recessive polycystic kidney disease|Polycystic kidney disease 4
- rs137852945Uncertain significancesingle nucleotide variantAutosomal recessive polycystic kidney disease
- rs201173272Uncertain significancesingle nucleotide variant
Other listed variants
- rs624699
- rs648252
- rs728996
- rs788510
- rs814202
- rs1321517
- rs1326589
- rs1326591
- rs1892274
- rs1896967
- rs2149580
- rs2182505
- rs2499476
- rs2499486
- rs2661507
- rs2894788
- rs2894796
- rs4711987
- rs4715233
- rs6458777
- rs6458792
- rs6906559
- rs6921803
- rs6937025
- rs7760761
- rs9296661
- rs9296668
- rs9349599
- rs9357723
- rs9370043
- rs9370079
- rs9382036
- rs9463719
- rs9474033
- rs9474062
- rs10498792
- rs10948653
- rs10948668
- rs11969034
- rs12194064
- rs12209427
- rs12212492
- rs12213800
- rs12661470
- rs17667927
- rs17747707
- rs17754190
- rs35954388
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.