rs7080536, HABP2;NRAP

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
0.030 GeneticVariation BEFREE A single nucleotide polymorphism (G534E) in HABP2 leads to lower enzymatic activity and is associated with enhanced liver fibrosis in humans. 27462075 2016
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
0.030 GeneticVariation BEFREE A single nucleotide polymorphism (G534E, Marburg I, MI-SNP) in the gene encoding FSAP (HABP2) leads to lower enzymatic activity and is associated with enhanced liver fibrosis in humans. 22989567 2013
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
0.030 GeneticVariation BEFREE The G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP. 19105210 2009