| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | BEFREE | Recent studies have shown that hereditary hemochromatosis (HH) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HFE gene located 4.5 Mb telomeric to HLA-A. | 9358014 | 1997 |
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|
0.080 | GeneticVariation | BEFREE | An expected significant association between HH and HLA-A3 was observed, which was found to be in linkage disequilibrium with the C282Y mutation. | 9510559 | 1998 |
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|
0.080 | GeneticVariation | BEFREE | Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis? | 9881181 | 1998 |
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|
0.080 | GeneticVariation | BEFREE | C282Y/C282Y genotype is the prevalent genotype in Hereditary Haemochromatosis (HH), however, other genotypes have been associated with the disease. | 11840200 | 2001 |
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|
0.080 | GeneticVariation | BEFREE | The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil. | 11887210 | 2002 |
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|
0.080 | GeneticVariation | BEFREE | The most common mutation of HFE, C282Y, has a Celtic origin and most patients with HH are homozygous for it in Northern European populations. | 12002748 | 2002 |
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|
0.080 | GeneticVariation | BEFREE | One of these (C282Y) is present in a large proportion of Caucasian HH patients. | 12753664 | 2003 |
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|
0.080 | GeneticVariation | BEFREE | Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron overload occurring commonly in subjects homozygous for the C282Y mutation in HFE gene localized on chromosome 6p21.3 in linkage disequilibrium with the human leukocyte antigen (HLA)-A locus. | 24282517 | 2013 |