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 Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. 26695994

2015
dbSNP: rs369925690
rs369925690
PKHD1
C 0.800 CausalMutation CLINVAR A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients. 25701400

2015
dbSNP: rs369925690
rs369925690
PKHD1
C 0.800 CausalMutation CLINVAR Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. 26695994

2015
dbSNP: rs142107837
rs142107837
PKHD1
T 0.800 GeneticVariation CLINVAR Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. 24984783

2014
dbSNP: rs760222236
rs760222236
PKHD1
G 0.800 CausalMutation CLINVAR Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. 24162162

2014
dbSNP: rs777999875
rs777999875
PKHD1
C 0.800 GeneticVariation CLINVAR Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. 24984783

2014
dbSNP: rs369925690
rs369925690
PKHD1
C 0.800 CausalMutation CLINVAR Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. 23582048

2013
dbSNP: rs760222236
rs760222236
PKHD1
G 0.800 CausalMutation CLINVAR Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. 23582048

2013
dbSNP: rs148617572
rs148617572
PKHD1 ; LOC105375087
A 0.800 GeneticVariation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 CausalMutation CLINVAR Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. 20413436

2010
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 GeneticVariation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs200179145
rs200179145
PKHD1
T 0.800 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs200391019
rs200391019
PKHD1
A 0.800 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs200511261
rs200511261
PKHD1
G 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010
dbSNP: rs200511261
rs200511261
PKHD1
G 0.800 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs369925690
rs369925690
PKHD1
C 0.800 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs369925690
rs369925690
PKHD1
C 0.800 CausalMutation CLINVAR Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. 20413436

2010
dbSNP: rs369925690
rs369925690
PKHD1
C 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010
dbSNP: rs398124495
rs398124495
PKHD1
G 0.800 GeneticVariation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs745770404
rs745770404
PKHD1
T 0.800 GeneticVariation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs745770404
rs745770404
PKHD1
T 0.800 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs748540413
rs748540413
PKHD1
C 0.800 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs750730042
rs750730042
PKHD1
T 0.800 GeneticVariation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010
dbSNP: rs760222236
rs760222236
PKHD1
G 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839

2010
dbSNP: rs760222236
rs760222236
PKHD1
G 0.800 CausalMutation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852

2010