Gene: PKHD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748540413
rs748540413
PKHD1
C 0.800 CausalMutation CLINVAR Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. 29956005

2018
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: rs199568593
rs199568593
PKHD1
G 0.700 GeneticVariation CLINVAR Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation. 28851938

2017
dbSNP: rs747322128
rs747322128
PKHD1
A 0.700 GeneticVariation CLINVAR Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. 28170084

2017
dbSNP: rs765390756
rs765390756
PKHD1 ; LOC105375087
T 0.700 GeneticVariation CLINVAR Genetic analysis of the PKHD1 gene with long-rang PCR sequencing. 27752906

2016
dbSNP: rs770461067
rs770461067
PKHD1 ; LOC105375087
G 0.700 CausalMutation CLINVAR Genetic analysis of the PKHD1 gene with long-rang PCR sequencing. 27752906

2016
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 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411

2016
dbSNP: rs1554218666
rs1554218666
PKHD1
A 0.800 GeneticVariation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs200391019
rs200391019
PKHD1
A 0.800 CausalMutation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs750730042
rs750730042
PKHD1
T 0.800 GeneticVariation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs760222236
rs760222236
PKHD1
G 0.800 CausalMutation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs1057517158
rs1057517158
PKHD1
A 0.700 GeneticVariation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs1554198717
rs1554198717
PKHD1
A 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs1554200780
rs1554200780
PKHD1
A 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs1554271235
rs1554271235
PKHD1
C 0.700 GeneticVariation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs199839578
rs199839578
PKHD1 ; LOC105375087
A 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs267601070
rs267601070
PKHD1
C 0.700 GeneticVariation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs376987651
rs376987651
PKHD1
C 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs727504096
rs727504096
PKHD1
A 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs746838237
rs746838237
PKHD1
GT 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs753307105
rs753307105
PKHD1
T 0.700 GeneticVariation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs770522674
rs770522674
PKHD1
A 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. 27225849

2016
dbSNP: rs148617572
rs148617572
PKHD1 ; LOC105375087
A 0.800 CausalMutation CLINVAR An Ashkenazi founder mutation in the PKHD1 gene. 26721323

2016
dbSNP: rs398124484
rs398124484
PKHD1
C 0.700 CausalMutation CLINVAR An Ashkenazi founder mutation in the PKHD1 gene. 26721323

2016