Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204688
rs786204688
A 0.710 GeneticVariation CLINVAR The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated. 23389334

2013

dbSNP: rs786204688
rs786204688
0.710 GeneticVariation BEFREE The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated. 23389334

2013

dbSNP: rs786204688
rs786204688
A 0.710 CausalMutation CLINVAR The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated. 23389334

2013

dbSNP: rs786204688
rs786204688
A 0.710 GeneticVariation CLINVAR PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). 15108281

2004

dbSNP: rs786204688
rs786204688
A 0.710 CausalMutation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003

dbSNP: rs786204688
rs786204688
A 0.710 GeneticVariation CLINVAR Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 12506140

2003