PKHD1

203 SNPs in the PKHD1 gene, 86 with a genotype of magnitude 2 or higher.

Type: Gene
SNPs: 203
Notable: 86Magnitude 2 or higher
Well documented: 5
Genosets: 0

PKHD1 SNPs

Every genotype, as shown in 23andMe and AncestryDNA files.

rs28937907Very important
- G;Gcommon in clinvarGood
- A;Gcarrier of a possible polycystic kidney disease alleleBad
- A;Apossible polycystic kidney diseaseBad
rs137852946Very important
- T;Tpossible polycystic kidney diseaseBad
- C;Tcarrier of a possible polycystic kidney disease alleleBad
- C;Ccommon in clinvarGood
rs2435322Typical
- C;Ccommon in complete genomicsGood
- A;Cconsidered benignGood
- A;Acommon in clinvarGood
rs9296669Typical
- G;Gcommon in clinvarGood
rs9370096Typical
- G;Gcommon in clinvarGood
rs368263958Very important
- A;AAutosomal recessive polycystic kidney diseaseBad
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon in clinvarGood
- G;TCarrier of a rare variant in the PKHD1 gene, of uncertain significanceBad
i5000044Very important
- A;Apolycystic kidney diseaseBad
- G;Gcommon/normalGood
i5000046Very important
- A;APolycystic kidney diseaseBad
- A;Gcarrier of a polycystic kidney disease alleleBad
- G;Gcommon/normalGood
rs28939383Very important
- G;GNo summary available.Not rated
- A;Gcarrier of a polycystic kidney disease alleleBad
- A;APolycystic kidney diseaseBad
rs137852944Very important
- G;Gcommon in clinvarGood
- A;Gcarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;APolycystic kidney diseaseBad
rs137852949Very important
- G;Gcommon in clinvarGood
- A;Gcarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;APolycystic Kidney diseaseBad
rs199531851Very important
- A;APolycystic kidney diseaseBad
- A;Gcarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon/normalGood
rs200179145Very important
- A;Acommon in clinvarGood
- A;Tcarrier of an autosomal recessive polycystic kidney disease mutationBad
- T;TPolycystic kidney diseaseBad
rs200511261Very important
- A;Acommon/normalGood
- A;Gcarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;GPolycystic Kidney diseaseBad
rs201082169Very important
- A;APolycystic kidney diseaseBad
- A;Gcarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon/normalGood
rs369925690Very important
- C;CPolycystic Kidney diseaseBad
- C;Tcarrier of an autosomal recessive polycystic kidney disease mutationBad
- T;Tcommon/normalGood
rs398124484Very important
- CC;CCcommon in clinvarGood
- C;CCcarrier of a polycystic kidney disease alleleBad
- C;CPolycystic kidney diseaseBad
rs398124502Very important
- -;-Polycystic Kidney diseaseBad
- -;Tcarrier of an autosomal recessive polycystic kidney disease mutationBad
- T;Tcommon in clinvarGood
rs746838237Very important
- -;-common/normalGood
- -;Tcarrier of a polycystic kidney disease alleleBad
- T;TPolycystic kidney diseaseBad
rs760222236Very important
- A;Acommon/normalGood
- A;Gcarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;GPolycystic kidney diseaseBad
i5000043Very important
- A;AnormalGood
- A;GAutosomal Recessive Polycystic Kidney Disease carrierBad
- G;GAutosomal Recessive Polycystic Kidney DiseaseBad
i5000045Very important
- A;AnormalGood
- A;GAutosomal Recessive Polycystic Kidney Disease carrierBad
- G;GAutosomal Recessive Polycystic Kidney DiseaseBad
i5000047Very important
- C;CAutosomal Recessive Polycystic Kidney DiseaseBad
- C;TAutosomal Recessive Polycystic Kidney Disease carrierBad
- T;TnormalGood
rs137852945Important
- G;Gcommon in clinvarGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs137852947Important
- G;Gcommon in clinvarGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs137852948Important
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;Acommon in clinvarGood
rs137852950Important
- A;CCarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;Acommon in clinvarGood
rs142107837Important
- C;Ccommon in clinvarGood
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs142146981Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- T;Tcommon/normalGood
rs148617572Important
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon in clinvarGood
rs149798764Important
- A;Acommon/normalGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;GNo summary available.Not rated
rs180675584Important
- C;Ccommon/normalGood
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs181208607Important
- G;Gcommon in clinvarGood
- G;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs189345248Important
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon/normalGood
rs200391019Important
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon/normalGood
rs201881567Important
- A;Acommon/normalGood
- A;CCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs398124475Important
- A;CCarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;Acommon in clinvarGood
rs398124476Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs398124477Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs398124478Important
- G;Gcommon in clinvarGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs398124479Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs398124480Important
- G;Gcommon in clinvarGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs398124481Important
- -;GACarrier of an autosomal recessive polycystic kidney disease mutationBad
- GA;GAcommon in clinvarGood
rs398124483Important
- -;CCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs398124485Important
- C;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs398124486Important
- C;Ccommon in clinvarGood
- C;TATTCCCCCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs398124487Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs398124491Important
- T;Tcommon in clinvarGood
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs398124495Important
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;Acommon in clinvarGood
rs398124496Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs398124498Important
- C;Ccommon in clinvarGood
- A;CCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs398124500Important
- G;Gcommon in clinvarGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs398124501Important
- -;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon in clinvarGood
rs398124503Important
- G;Gcommon in clinvarGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs727504087Important
- -;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- T;Tcommon in clinvarGood
rs727504089Important
- G;Gcommon in clinvarGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs727504096Important
- G;Gcommon in clinvarGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs745770404Important
- C;Ccommon in clinvarGood
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs746471701Important
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon in clinvarGood
rs746972457Important
- -;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon in clinvarGood
- I;Icommon genotypeGood
rs748540413Important
- A;Acommon/normalGood
- A;CCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs748863662Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- T;Tcommon/normalGood
rs749293235Important
- A;Acommon in clinvarGood
- A;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs754392766Important
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon in clinvarGood
rs755654557Important
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon/normalGood
rs770461067Important
- -;ACarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;Acommon/normalGood
rs771180444Important
- -;TGCarrier of an autosomal recessive polycystic kidney disease mutationBad
- TG;TGcommon in clinvarGood
rs771623148Important
- -;-common in clinvarGood
- -;ACarrier of an autosomal recessive polycystic kidney disease mutationBad
rs773136605Important
- C;Ccommon in clinvarGood
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs777183511Important
- G;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- T;Tcommon/normalGood
rs777999875Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- T;Tcommon/normalGood
rs781368899Important
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon in clinvarGood
rs786204241Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs786204588Important
- -;AATGCarrier of an autosomal recessive polycystic kidney disease mutationBad
- AATG;AATGcommon in clinvarGood
rs786204688Important
- G;Gcommon/normalGood
- A;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs786204696Important
- A;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;Acommon in clinvarGood
rs786204707Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs786204749Important
- G;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon in clinvarGood
rs786205582Important
- T;Tcommon in clinvarGood
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs794727037Important
- G;Gcommon in clinvarGood
- C;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs794727572Important
- -;AGCarrier of an autosomal recessive polycystic kidney disease mutationBad
- AG;AGcommon in clinvarGood
rs794727680Important
- C;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs794727819Important
- A;TCarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;Acommon in clinvarGood
rs797044607Important
- -;CCarrier of an autosomal recessive polycystic kidney disease mutationBad
- C;Ccommon in clinvarGood
rs797044713Important
- -;-common/normalGood
- -;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
rs797044745Important
- -;-common/normalGood
- -;ACarrier of an autosomal recessive polycystic kidney disease mutationBad
rs797045101Important
- -;ACarrier of an autosomal recessive polycystic kidney disease mutationBad
- A;Acommon/normalGood
rs863224528Important
- -;-common in clinvarGood
- -;ACarrier of an autosomal recessive polycystic kidney disease mutationBad
rs868562051Important
- -;GCarrier of an autosomal recessive polycystic kidney disease mutationBad
- G;Gcommon/normalGood

Conditions and medicines

Polycystic kidney diseaseCondition
Autosomal recessive polycystic kidney diseaseCondition
Colorectal cancerCondition

Other SNPs

No notable genotype or detailed notes

Show 114 SNPs

i5000041
i5000042
i5000048
i5007344
i5007345
i5900581
i6016603
i6016604
i6016614
i6016630
i6016638
i6016642
i6016643
i6016673
i6016687
i6016690
i6016692
i6016706
i6016707
i6016714
i6016719
i6016737
i6016785
i6016787
i6016800
i6016808
i6016815
i6016818
i6016828
i6016851
rs728996
rs2025751
rs10498792
rs28939099
rs146649803
rs199839578
rs267601070
rs748365248
rs749768205
rs751084512
rs751754608
rs757099749
rs757521428
rs757854282
rs760260903
rs760921148
rs767695967
rs774250209
rs774759689
rs778537772
rs794727566
rs794727759
rs886039888
rs886042676
rs886042677
rs886043593
rs886061616
rs1020621286
rs1057516201
rs1057516221
rs1057516263
rs1057516283
rs1057516345
rs1057516382
rs1057516407
rs1057516413
rs1057516441
rs1057516445
rs1057516490
rs1057516562
rs1057516577
rs1057516588
rs1057516594
rs1057516596
rs1057516607
rs1057516608
rs1057516626
rs1057516652
rs1057516690
rs1057516691
rs1057516692
rs1057516697
rs1057516706
rs1057516709
rs1057516751
rs1057516762
rs1057516768
rs1057516775
rs1057516804
rs1057516835
rs1057516872
rs1057516885
rs1057516922
rs1057516975
rs1057516982
rs1057517006
rs1057517047
rs1057517071
rs1057517078
rs1057517158
rs1057517178
rs1057517220
rs1057517244
rs1057517249
rs1057517270
rs1057517273
rs1057517324
rs1057517326
rs1057517357
rs1057517378
rs1057517387
rs1057517394
rs1057518952
rs1064796287

Source and license

Adapted from PKHD1 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.

PKHD1 SNPs

Related

Conditions and medicines

Other SNPs

Source and license