Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases. 30339210

2019

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE In this context, we aimed to evaluate the prevalence of the polymorphic variants (C282Y, H63D and S65C) of the HFE gene in the population of the Espírito Santo State (ES), Brazil by analyzing three different groups: general population (N = 120), Pomeranian descendants (N = 59), and patients with HH (N = 20). 27173269

2016

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE The aim of this study was to evaluate the OpenArray platform for genetic testing of blood donors and to assess the genotype frequencies of nucleotide-polymorphisms (SNPs) associated with venous thrombosis (G1691A and G20210A), hyperhomocysteinemia (C677T, A1298C), and hereditary hemochromatosis (C282Y, H63D and S65C) in blood donors from Sao Paulo, Brazil. 25955572

2015

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not. 26142323

2015

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE Among the patients, 20% had genotypes related to HH--7.4% were homozygous for C282Y, 6.3% were compound heterozygous for C282Y and H63D, 5.7% were homozygous for H63D, and 0.6% was compound heterozygous for C282Y and S65C. 21959608

2011

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated with hereditary hemochromatosis in populations of Celtic origin, H63D and S65C are associated with milder form of iron overload. 19822954

2009

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE We investigate the prevalence of C282Y, H63D and S65C mutations in 95 individuals (77 males, 18 females) bearing iron metabolism alterations to establish an early diagnosis of HH. 19656448

2009

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE This is the first analysis of the S65C mutation in individuals suspected of having hereditary hemochromatosis in Brazil. 19681031

2009

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE Improved real-time detection of the H63D and S65C mutations associated with hereditary hemochromatosis using a SimpleProbe assay format. 18624620

2008

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the iron overload disorder of hereditary hemochromatosis (C282Y, H63D and S65C) were evaluated as factors in sporadic AD in an Ontario sample in which folic acid fortification has been mandatory since 1998. 18525129

2008

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE Although the most prevalent genotype in HH is homozygosity for C282Y mutation of the HFE gene, two additional mutations, H63D and S65C, appear to be associated with a milder form of HH. 18036208

2007

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE Three HFE gene mutations (HFE 845 G-->A, 187 C-->G and 193 A-->T) are the most common mutations related to hereditary haemochromatosis (HH). 15986199

2005

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE Two other mutations, 187G, a histidine to aspartate at amino acid 63 (H63D), and 193T, a serine to cysteine at amino acid 65 (S65C), appear to be associated with milder forms of hereditary hemochromatosis. 12547216

2003

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE The C282Y mutation of the HFE gene, held responsible for HH, has been identified as the major genetic basis for the phenotypic expression of HH whereas two additional mutations of the HFE H63D and S65C gene appear to be associated with a milder form of HH. 12952143

2003

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE When combined with the C282Y mutation, the S65C mutation is associated with an increased risk of being diagnosed with phenotypic HH. 12180078

2002

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE There was no evidence of HH in the H63D homozygotes or S65C heterozygotes. 12512743

2002

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE A considerable incidence of S65C is observed either in controls and in HH (3%) or in iron overloaded patients. 11840200

2001

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE Using fluorescently labeled allele-specific primers, the S65C (193A-->T) substitution associated with hereditary haemochromatosis in the HFE gene is genotyped. 10939445

2000

dbSNP: rs1800730
rs1800730
0.100 GeneticVariation BEFREE This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis. 10194428

1999