HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Hemophilia B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750703108
rs750703108
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
CUI: C0008533
Disease:
Hemophilia B 		0.010 GeneticVariation BEFREE A comparison of the -21 mutation with the previously described -20 T-->A mutation (associated with the hemophilia B Leyden phenotype) and -26 G-->C mutation (associated with severe hemophilia B throughout life) was made. 8324220 1993