rs952497863, HNF4A

N. diseases: 4
Disease: Diabetes Mellitus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. 26981542 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE The heterozygous T130I mutation was the unique functional gene variation that could explain diabetes phenotype. 25361053 2014