Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777732
rs587777732
T 0.800 CausalMutation CLINVAR Fainting Fanconi syndrome clarified by proxy: a case report. 28693455

2017

dbSNP: rs587777732
rs587777732
T 0.800 CausalMutation CLINVAR Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. 28458902

2017

dbSNP: rs587777732
rs587777732
T 0.800 CausalMutation CLINVAR Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. 27245055

2016

dbSNP: rs587777732
rs587777732
T 0.800 CausalMutation CLINVAR Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. 25819479

2015

dbSNP: rs587777732
rs587777732
0.800 GeneticVariation UNIPROT The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859

2014

dbSNP: rs587777732
rs587777732
T 0.800 CausalMutation CLINVAR The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 24285859

2014

dbSNP: rs587777732
rs587777732
0.800 GeneticVariation UNIPROT Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 22802087

2012

dbSNP: rs587777732
rs587777732
T 0.800 CausalMutation CLINVAR Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. 20164212

2010