Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis. 28617828

2017

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The frequencies of HD genotype of H63D mutation were significantly increased in HCC patients compared to control group and to cirrhosis group. 21925577

2011

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The presence of the relatively high frequency of A1AT S and HFE H63D allele carriers in Egyptian cases of HCV liver cirrhosis suggest the necessity to implement routine molecular analysis of these genes for detection of risk genotypes among affected families. 16802007

2006

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE H63D heterozygote and homozygote, occurring in less than 5% of the subjects, tended to be associated with the development of liver cirrhosis, irrespective of viral etiology. 15780041

2005

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE HFE mutations (C282Y and H63D) were assessed in 162 consecutive patients (131 men/31 women) with HCC.A total of 159 patients had cirrhosis. 12591066

2003

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE C282Y or H63D heterozygosity is an independent risk factor for liver fibrosis and cirrhosis in HCV infected individuals. 12586300

2003

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE By multivariate logistic regression analysis the odds ratio for the development of advanced fibrosis or cirrhosis (F2-F4) was 2.5 for HCV-infected patients carrying a heterozygous C282Y mutation and 4.8 for HCV-infected patients with C282Y/H63D and C282Y/S65C compound heterozygosity. 14557859

2003

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE C282Y and H63D mutations do not appear to be associated with an increased risk of HCC in patients with cirrhosis. 12865278

2003

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The aim of this study was to investigate the association between HFE gene mutations (C282Y, H63D) and hepatocellular carcinoma in patients with alcoholic and virus-related cirrhosis. 12003382

2002

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The aims of this study were to define the prevalence of the mutations 845G --> A and 187C --> G (C282Y and H63D) in the HFE gene associated with hereditary hemochromatosis in Italian patients with hepatocellular carcinoma occurring in cirrhosis and to analyze the interaction between these mutations and other established risk factors for hepatocellular carcinoma. 11500061

2001

dbSNP: rs1799945
rs1799945
0.100 GeneticVariation BEFREE The possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality associated with the H63D mutation of the HFE gene is proposed. 11473464

2001