Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. 31582009

2019

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE These diagnoses are more common than HH among patients with elevated serum ferritin who are not C282Y homozygotes or C282Y/H63D compound heterozygotes. 31335359

2019

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE In hereditary hemochromatosis, iron overload is associated with homozygosity for the p.C282Y mutation. 30827762

2019

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Genetic hemochromatosis is mainly related to the homozygous p.Cys282Tyr (C282Y) mutation in the HFE gene, which causes hepcidin deficiency. 30244162

2019

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Hereditary hemochromatosis (HH) is a rare disorder in Indians and is not associated with the common mutation Cys282Tyr in HFE gene found in Caucasians. 30195625

2018

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting about 1 in 1000 people of Northern European ancestry, where the associated genetic defect (homozygosity for the p.Cys282Tyr polymorphism in the HFE gene) has a prevalence of approximately 1:200. 30514216

2018

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Phenotypic and clinical data from a total of 156 patients with non-HFE HH was extracted from 53 publications and compared with data from 984 patients with <i>HFE</i>-p.C282Y homozygous HH from the QIMR Berghofer Hemochromatosis Database. 29743178

2018

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Using our findings, we developed an evidence-based laboratory testing algorithm based on a TS ≥45%, a SF ≥1000 µg/L and/or a family history of HH which identified all C282Y homozygotes in this study. 28019068

2017

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE For HH, WGS identified a known disease variant (p.C282Y) in HFE of an affected female. 28228131

2017

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Hence, homozygosity for p.C282Y is not sufficient to diagnose HH. 26153218

2016

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Statistically significant differences were observed for genotype distribution of C282Y (P < 0.001) and H63D (P = 0.013) between the general population and the patients diagnosed with HH. 27173269

2016

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE The predicted prevalence of HFE HH and the p.Cys282Tyr mutation closely matched previous estimates from similar populations. 26633544

2016

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE The modified IAI is a fairly good predictor in non-PPI-using homozygous C282Y HH patients, to differentiate who needs ≥3 maintenance phlebotomies per year. 26992127

2016

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants). 27124787

2016

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE We conducted a retrospective study of patients with HH homozygous for the C282Y mutation by using the database and medical records from Atrium Medical Centrum Parkstad in Brunssum, The Netherlands. 26240005

2016

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE To investigate the association between mutation of HFE (the principal pathogenic gene in hereditary haemochromatosis) and risk of cancer, we conducted a meta-analysis of all available case-control or cohort studies relating to two missense mutations, C282Y and H63D mutations. 26893171

2016

dbSNP: rs1800562
rs1800562
A 0.800 CausalMutation CLINVAR EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). 26153218

2016

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE The detection rate for homozygous C282Y HH for male patients with both SF ≥ 300 μg/L and Tsat >50% was 18.8% (52/272) and 16.3% (68/415) for female patients with both SF ≥ 200 μg/L and Tsat >40%. 25540266

2015

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Familial screening revealed that her mother and maternal grandmother were also affected and, in addition, respectively heterozygous and homozygous for the hereditary haemochromatosis mutation HFE C282Y. 25990487

2015

dbSNP: rs1800562
rs1800562
0.800 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: rs1800562
rs1800562
A 0.800 CausalMutation CLINVAR Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. 26365338

2015

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Results revealed that the family's HH pseudodominant pattern is due to consanguineous marriage of HFE-c.845G>A carriers, and to marriage with a genetically unrelated spouse that is a -c.187G carrier. 26501199

2015

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE Given the higher rate of HH diagnosis than in prior studies, the high penetrance of iron overload, and the frequency of at-risk genotypes, in addition to other suggested actionable adult-onset genetic conditions, opportunistic screening should be considered for p.[Cys282Tyr];[Cys282Tyr] individuals with existing genomic data. 26365338

2015

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE HFE p.C282Y homozygosity is the most common cause of hereditary haemochromatosis. 26270952

2015

dbSNP: rs1800562
rs1800562
0.800 GeneticVariation BEFREE It is mainly related to the homozygous C282Y/C282Y mutation in the HFE gene that is, however, a necessary but not a sufficient condition to develop clinical and even biochemical HH. 25457201

2015