Gene: PKD1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516041
rs1057516041
PKD1 ; LOC105371049
T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs148812376
rs148812376
PKD1
A 0.700 GeneticVariation CLINVAR Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. 26139440

2016
dbSNP: rs148812376
rs148812376
PKD1
A 0.700 GeneticVariation CLINVAR Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367

2012
dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs1358566538
rs1358566538
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs139945204
rs139945204
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs139971481
rs139971481
PKD1 ; MIR6511B1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs140791671
rs140791671
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs140869992
rs140869992
PKD1 ; MIR6511B1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs1416373452
rs1416373452
PKD1 ; LOC105371049
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs141946034
rs141946034
PKD1 ; LOC105371049
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs142768096
rs142768096
PKD1 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs143690392
rs143690392
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs1456510041
rs1456510041
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs148812376
rs148812376
PKD1
A 0.700 GeneticVariation CLINVAR Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 19165178

2009
dbSNP: rs149151043
rs149151043
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs151257298
rs151257298
PKD1 ; MIR6511B1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs1555450487
rs1555450487
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs1555453210
rs1555453210
PKD1 ; MIR6511B1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs1555458892
rs1555458892
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs199476099
rs199476099
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs201238819
rs201238819
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs201780393
rs201780393
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs2549677
rs2549677
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009
dbSNP: rs371283948
rs371283948
PKD1
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009