Gene: PKHD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200391019
rs200391019
PKHD1
A 0.800 CausalMutation CLINVAR [Neoplasic perineal implantation following needle biopsy (author's transl)]. 1189128

1975
dbSNP: rs199568593
rs199568593
PKHD1
G 0.700 GeneticVariation CLINVAR [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review]. 29643536

2018
dbSNP: rs199839578
rs199839578
PKHD1 ; LOC105375087
A 0.700 CausalMutation CLINVAR [Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease]. 27577217

2016
dbSNP: rs199568593
rs199568593
PKHD1
G 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. 24710345

2014
dbSNP: rs786204688
rs786204688
PKHD1
A 0.710 CausalMutation CLINVAR The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated. 23389334

2013
dbSNP: rs786204688
rs786204688
PKHD1
A 0.710 GeneticVariation CLINVAR The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated. 23389334

2013
dbSNP: rs137852944
rs137852944
PKHD1
A 0.810 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 GeneticVariation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs369925690
rs369925690
PKHD1
C 0.800 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs748540413
rs748540413
PKHD1
C 0.800 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs760222236
rs760222236
PKHD1
G 0.800 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs1554167673
rs1554167673
PKHD1
T 0.700 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs201082169
rs201082169
PKHD1 ; LOC105375087
A 0.700 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs746838237
rs746838237
PKHD1
GT 0.700 CausalMutation CLINVAR The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560

2002
dbSNP: rs199568593
rs199568593
PKHD1
G 0.700 GeneticVariation CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411

2016
dbSNP: rs137852944
rs137852944
PKHD1
A 0.810 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs148617572
rs148617572
PKHD1 ; LOC105375087
A 0.800 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs148617572
rs148617572
PKHD1 ; LOC105375087
A 0.800 GeneticVariation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs369925690
rs369925690
PKHD1
C 0.800 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs760222236
rs760222236
PKHD1
G 0.800 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs786204688
rs786204688
PKHD1
A 0.710 GeneticVariation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003
dbSNP: rs786204688
rs786204688
PKHD1
A 0.710 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003