Disease: Autosomal Recessive Polycystic Kidney Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141103838
rs141103838
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		T 0.700 GeneticVariation CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778 2016
dbSNP: rs141103838
rs141103838
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. 19940839 2010
dbSNP: rs141103838
rs141103838
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease 		T 0.700 GeneticVariation CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852 2010