Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517744
rs1057517744
HNF1B
A 0.700 CausalMutation CLINVAR Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. 27234567

2016
dbSNP: rs1057517744
rs1057517744
HNF1B
A 0.700 CausalMutation CLINVAR HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. 25536396

2015
dbSNP: rs1057517744
rs1057517744
HNF1B
A 0.700 CausalMutation CLINVAR A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update. 25700310

2015
dbSNP: rs1057517744
rs1057517744
HNF1B
A 0.700 CausalMutation CLINVAR The HNF1B score is a simple tool to select patients for HNF1B gene analysis. 24897035

2014
dbSNP: rs1057517744
rs1057517744
HNF1B
A 0.700 CausalMutation CLINVAR HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. 21380624

2011
dbSNP: rs1057517744
rs1057517744
HNF1B
A 0.700 CausalMutation CLINVAR Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. 15930087

2006
dbSNP: rs1057517744
rs1057517744
HNF1B
A 0.700 CausalMutation CLINVAR Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. 16249435

2005
dbSNP: rs1057517744
rs1057517744
HNF1B
A 0.700 CausalMutation CLINVAR Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. 15068978

2004