Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1033550407
rs1033550407
PKD1
0.700 GeneticVariation UNIPROT

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: rs1057516202
rs1057516202
PKD1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516206
rs1057516206
PKD1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518897
rs1057518897
PKD1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499699
rs1060499699
PKD1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499702
rs1060499702
PKD1 ; MIR6511B1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499704
rs1060499704
PKD1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499718
rs1060499718
PKD1 ; MIR1225 ; LOC105371049
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167366
rs1114167366
PKD1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1114167370
rs1114167370
PKD1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs114251396
rs114251396
PKD1 ; TSC2 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT

dbSNP: rs115538130
rs115538130
PKD1 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT

dbSNP: rs1161298621
rs1161298621
PKD1 ; MIR6511B1
0.700 GeneticVariation UNIPROT

dbSNP: rs1167476946
rs1167476946
PKD1 ; LOC105371049
0.700 GeneticVariation UNIPROT

dbSNP: rs1218054241
rs1218054241
PKD1 ; MIR1225 ; LOC105371049
T 0.700 CausalMutation CLINVAR

dbSNP: rs1266492292
rs1266492292
PKD1
0.700 GeneticVariation UNIPROT

dbSNP: rs1282205691
rs1282205691
PKD1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. 10364515

1999
dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
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

2002
dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families. 11857740

2002
dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family. 11558899

2001
dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. 10729710

2000
dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. 10577909

1999
dbSNP: rs1282668884
rs1282668884
PKD1 ; MIR1225 ; LOC105371049
0.700 GeneticVariation UNIPROT Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene. 10647901

1999