HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Diabetes Mellitus, Non-Insulin-Dependent ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763010207
rs763010207
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation BEFREE The D76N variant was found in one MODY3 family (S315fsinsA of HNF1alpha) and also in two families with late-onset Type II diabetes. 11270685 2001
dbSNP: rs763010207
rs763010207
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation BEFREE In the patients with late-onset type 2 diabetes we identified a noncoding G insertion/deletion polymorphism at nucleotide -108, a silent G54G, and a rare missense D76N variant. 10720084 2000