Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1033550407
rs1033550407
0.700 GeneticVariation UNIPROT Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007

2009

dbSNP: rs1057516041
rs1057516041
0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2017

dbSNP: rs1057516041
rs1057516041
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057516202
rs1057516202
0.700 GeneticVariation CLINVAR

dbSNP: rs1057516206
rs1057516206
0.700 CausalMutation CLINVAR

dbSNP: rs1057518897
rs1057518897
0.700 GeneticVariation UNIPROT Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. 11115377

2001

dbSNP: rs1057518897
rs1057518897
0.700 GeneticVariation UNIPROT Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 12842373

2003

dbSNP: rs1057518897
rs1057518897
0.700 GeneticVariation UNIPROT Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176

2012

dbSNP: rs1057518897
rs1057518897
0.700 GeneticVariation UNIPROT Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. 12482949

2003

dbSNP: rs1060499699
rs1060499699
0.700 GeneticVariation CLINVAR

dbSNP: rs1060499702
rs1060499702
0.700 CausalMutation CLINVAR

dbSNP: rs1060499704
rs1060499704
0.700 GeneticVariation CLINVAR

dbSNP: rs1060499718
rs1060499718
0.700 CausalMutation CLINVAR

dbSNP: rs1114167366
rs1114167366
0.700 CausalMutation CLINVAR

dbSNP: rs1114167370
rs1114167370
0.700 GeneticVariation CLINVAR

dbSNP: rs114251396
rs114251396
0.700 GeneticVariation UNIPROT Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176

2012

dbSNP: rs114251396
rs114251396
0.700 GeneticVariation UNIPROT Mutational analysis within the 3' region of the PKD1 gene. 10200984

1999

dbSNP: rs115538130
rs115538130
0.700 GeneticVariation UNIPROT DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. 10987650

2000

dbSNP: rs139945204
rs139945204
0.700 GeneticVariation UNIPROT A complete mutation screen of the ADPKD genes by DHPLC. 11967008

2002

dbSNP: rs139971481
rs139971481
0.700 GeneticVariation UNIPROT Novel mutations in the duplicated region of PKD1 gene. 10854095

2000

dbSNP: rs140791671
rs140791671
0.700 GeneticVariation UNIPROT Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion. 11216660

2001

dbSNP: rs140869992
rs140869992
0.700 GeneticVariation UNIPROT Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 12842373

2003

dbSNP: rs140869992
rs140869992
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
0.700 GeneticVariation UNIPROT Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. 9199561

1997

dbSNP: rs142768096
rs142768096
0.700 GeneticVariation UNIPROT Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene. 9521593

1998