Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780813696
rs780813696
HNF4A ; MIR3646
0.020 GeneticVariation BEFREE The HNF4A p.R76W mutation causes congenital hyperinsulinism with Fanconi syndrome. 25819479

2015
dbSNP: rs780813696
rs780813696
HNF4A ; MIR3646
0.020 GeneticVariation BEFREE The HNF4A R76W mutation is an unusual example of a mutation specific phenotype, with autosomal dominant atypical Fanconi syndrome in addition to the established beta cell phenotype. 24285859

2014