openSNP | rs1800562

Links to SNPedia

Title	Summary
rs1800562 G/G	Not a c282y hemochromatosis carrier.
rs1800562 A/G	One copy of c282y, carrier of hemochromatosis, likely unaffected unless also h63d carrier.
rs1800562 A/A	Two copies of c282y, likely affected by hemochromatosis which may be serious if male or post-menopausal.

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Meian He	Genetic Determinants for Body Iron Store and Type 2 Diabetes Risk in US Men and Women	2012	3037
Jing Zhao	Ranking Candidate Disease Genes from Gene Expression and Protein Interaction: A Katz-Centrality Based Approach	2011	5445
Guangqin Fan	The Effect of the Hemochromatosis (HFE) Genotype on Lead Load and Iron Metabolism among Lead Smelter Workers	2014	1308
Irene Pichler	Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization Study	2013	25510
Christine E. McLaren	Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency	2011	6772
Stephen Burgess	Using Multivariable Mendelian Randomization to Disentangle the Causal Effects of Lipid Fractions	2014	3757
Tibor V. Varga	Genetic Determinants of Long-Term Changes in Blood Lipid Concentrations: 10-Year Follow-Up of the GLACIER Study	2014	4595
Iftikhar J. Kullo	A Genome-Wide Association Study of Red Blood Cell Traits Using the Electronic Medical Record	2010	5973
Peng Chen	A Study Assessing the Association of Glycated Hemoglobin A_1C (HbA_1C) Associated Variants with HbA_1C, Chronic Kidney Disease and Diabetic Retinopathy in Populations of Asian Ancestry	2013	3418
Alexander M. Kulminski	Birth Cohort, Age, and Sex Strongly Modulate Effects of Lipid Risk Alleles Identified in Genome-Wide Association Studies	2015	1876
The PLOS Genetics Staff	Correction: A Systems Genetics Approach Identifies CXCL14, ITGAX, and LPCAT2 as Novel Aggressive Prostate Cancer Susceptibility Genes	2015	1204
Vivian Dionisio Tavares Niewiadonski	Evaluation of a High Throughput Method for the Detection of Mutations Associated with Thrombosis and Hereditary Hemochromatosis in Brazilian Blood Donors	2015	838
Claudia C. Branco	Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal)	2015	766

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Christine E McLaren	Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency	2011	20	10.1371/journal.pone.0017390
Daphne L. Van Der A	HFE genotypes and dietary heme iron: No evidence of strong gene - Nutrient interaction on serum ferritin concentrations in middle-aged women	2006	2	10.1016/j.numecd.2005.07.008
Claudia Gundacker	Genetic background of lead and mercury metabolism in a group of medical students in Austria	2009	24	10.1016/j.envres.2009.05.003
Asha R Kallianpur	Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer.	2004	7	10.1158/1055-9965.EPI-03-0188
L. Valenti	Increased susceptibility to nonalcoholic fatty liver disease in heterozygotes for the mutation responsible for hereditary hemochromatosis	2003	1	10.1016/S1590-8658(03)00025-2
Andreas Erhardt	HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis	2003	6	10.1016/S0168-8278(02)00415-4
Daphne L van der A	Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherlands).	2003	2	10.1023/A:1024839528684
Mariëlle F Engberink	Hemochromatosis (HFE) genotype and atherosclerosis: Increased susceptibility to iron-induced vascular damage in C282Y carriers?	2010	3	10.1016/j.atherosclerosis.2010.03.018
Christine E. McLaren	Mixture models of serum iron measures in population screening for hemochromatosis and iron overload	2006	3	10.1016/j.trsl.2006.05.006
James M Ross	Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis.	2003	2
James E Nelson	Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations.	2012	4	10.1002/hep.25856
Christina Ellervik	Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: A retrospective study	2001	5	10.1016/S0140-6736(01)06526-6
Jill Waalen	Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center	2002	4	10.1016/S0002-9343(02)01249-4
Fei Jin	Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review.	2011	5	10.1007/s00432-010-0970-0
L. Bl??zquez	Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population	2007	5	10.1016/j.neurobiolaging.2006.08.009
Paolo Zamboni	Hemochromatosis C282Y gene mutation increases the risk of venous leg ulceration	2005	7	10.1016/j.jvs.2005.04.003
N Martinelli	Serum hepcidin levels correlate with phenotypes of the metabolic syndrome at population level	2011	1
Christine E. McLaren	Genome-wide association study identifies genetic loci associated with iron deficiency	2011	21	10.1371/journal.pone.0017390
E Beutler	Mutation analysis in hereditary hemochromatosis	1996	1	10.1006/bcmd.1996.0027
A Piperno	Hepatic iron overload in patients with chronic viral hepatitis: role of HFE gene mutations	1998	5	10.1002/hep.510280427
L R Fisher	Development of a pathology supported genetic testing strategy for improved clinical management of patients with non-alcoholic fatty liver disease (NAFLD)	2012	2
Vanessa Chambers	Haemochromatosis-associated HFE genotypes in English blood donors: Age-related frequency and biochemical expression	2003	2	10.1016/S0168-8278(03)00471-9
L Valenti	Increased susceptibility to nonalcoholic fatty liver disease in heterozygotes for the mutation responsible for hereditary hemochromatosis.	2003	1	10.1016/S1590-8658(03)00025-2
Ana Paula Correia	CAT53 and HFE alleles in Alzheimer's disease: A putative protective role of the C282Y HFE mutation	2009	4	10.1016/j.neulet.2009.03.088
A S Rosvik	Effect of iron supplementation on iron status during the first week after blood donation	2010	1	10.1111/j.1423-0410.2009.01270.x
Alena Bureti??-Tomljanovi??	The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men	2009	2	10.1016/j.fertnstert.2008.02.129
Sharon M. McDonnell	Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri	1999	3	10.1016/S0002-9343(99)00163-1
Kim Ekblom	Iron stores and HFE genotypes are not related to increased risk of first-time myocardial infarction: A prospective nested case-referent study	2011	1	10.1016/j.ijcard.2010.04.001
J E Nelson	Lower serum hepcidin and greater parenchymal iron in nonalcoholic fatty liver disease patients with C282Y HFE mutations	2012	1	-
Nicholas J Osborne	HFE C282Y Homozygotes Are at Increased Risk of Breast and Colorectal Cancer	2010	2	10.1002/hep.23448
Paolo Zamboni	Hemochromatosis C282Y gene mutation increases the risk of venous leg ulceration.	2005	5	10.1016/j.jvs.2005.04.003
Mari??lle F. Engberink	Hemochromatosis (HFE) genotype and atherosclerosis: Increased susceptibility to iron-induced vascular damage in C282Y carriers?	2010	3	10.1016/j.atherosclerosis.2010.03.018
D. D. Buchanan	The Cys282Tyr polymorphism in the HFE gene in Australian Parkinson's disease patients	2002	1	10.1016/S0304-3940(02)00398-1
James C Barton	Thyroid-stimulating hormone and free thyroxine levels in persons with HFE C282Y homozygosity, a common hemochromatosis genotype: the HEIRS study.	2008	3	10.1089/thy.2008.0091
Elizabeth H. Corder	Susceptibility groups for Alzheimer's disease (OPTIMA cohort): Integration of gene variants and biochemical factors	2007	10	10.1016/j.mad.2006.11.014
N Martinelli	Serum hepcidin levels correlate with phenotypes of the metabolic syndrome at population level	2011	1	-
Tatiana V. Kondrashova	Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers	2006	3	10.1016/j.bbadis.2005.09.003
Elizabeth A Milward	Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations.	2008	2	10.4065/83.5.543
Nicole Soranzo	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	2009	97	10.1038/ng.467
Asem Alkhateeb	Clinical characteristics and analysis of HFE gene variants [C282Y and H63D] in Jordanian Arab patients with age-related macular degeneration	2013	1	-
Michela Traglia	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	2011	4	-
D L van der A	HFE mutations and risk of coronary heart disease in middle-aged women.	2006	1	10.1111/j.1365-2362.2006.01711.x
Daniel Berlin	Evaluation of HFE (hemochromatosis) mutations as genetic modifiers in sporadic AD and MCI	2004	2	10.1016/j.neurobiolaging.2003.06.008
Luca Valenti	HFE Genotype, Parenchymal Iron Accumulation, and Liver Fibrosis in Patients With Nonalcoholic Fatty Liver Disease	2010	9	10.1053/j.gastro.2009.11.013
R. Moirand	Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives	1999	2	10.1016/S0016-5085(99)70134-4
Paul C Adams	HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study.	2009	5	10.1161/CIRCGENETICS.109.863860
F Festa	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism	2005	1	10.1016/j.mrfmmm.2005.01.026
Rolf V??rn Andersen	Hemochromatosis mutations in the general population: Iron overload progression rate	2004	14	10.1182/blood-2003-10-3564
F Festa	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism	2005	2	10.1016/j.mrfmmm.2005.01.026
C Mura	Relation between HFE mutations and mild iron-overload expression.	2000	1	10.1006/mgme.2000.2981
E Rossi	Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population.	2001	6
Smiljana Risti??	Mutations in the hemochromatosis gene (HFE) and multiple sclerosis	2005	4	10.1016/j.neulet.2005.04.045
M??ikel L. Colli	Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complications	2011	6	10.1016/j.jdiacomp.2009.12.002
Giuseppina Candore	Association between HFE mutations and acute myocardial infarction: A study in patients from Northern and Southern Italy	2003	1	10.1016/S1079-9796(03)00065-2
Vict??ria B??rez	Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population	2005	6	10.1016/j.cccn.2004.10.020
C Ellervik	Haemochromatosis genotype and iron overload: association with hypertension and left ventricular hypertrophy.	2010	2	10.1111/j.1365-2796.2010.02217.x
Mayka S??nchez	Population screening for hemochromatosis: A study in 5370 Spanish blood donors	2003	1	10.1016/S0168-8278(03)00123-5
S J Lewis	Maternal iron levels early in pregnancy are not associated with offspring IQ score at age 8, findings from a Mendelian randomization study.	2014	3	10.1038/ejcn.2013.265
James S. Pankow	HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study	2008	2	10.1016/j.trsl.2008.05.005
C T Terada	Iron deficiency and frequency of HFE C282Y gene mutation in Brazilian blood donors.	2009	2	10.1111/j.1365-3148.2009.00944.x
J S K Kauwe	Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease.	2010	8	-
J S K Kauwe	Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease.	2010	8	10.1002/ajmg.b.31053
Claus Hellerbrand	HFE C282Y heterozygosity in hepatocellular carcinoma: Evidence for an increased prevalence	2003	3	10.1016/S1542-3565(03)00132-0
D D Buchanan	The Cys282Tyr polymorphism in the HFE gene in Australian Parkinson's disease patients.	2002	1	10.1016/S0304-3940(02)00398-1
Olga J G Schiepers	Serum iron parameters, HFE C282Y genotype, and cognitive performance in older adults: results from the FACIT study.	2010	6	10.1093/gerona/glq149
M. Fatima MacEdo	Low serum transferrin levels in HFE C282Y homozygous subjects are associated with low CD8+ T lymphocyte numbers	2005	5	10.1016/j.bcmd.2005.08.001
J A Koziol	Reference centiles for serum ferritin and percentage of transferrin saturation, with application to mutations of the HFE gene.	2001	4
Christian E Wrede	Correlation between iron status and genetic hemochromatosis (codon C282Y) in a large German population.	2004	2
S B Parks	Real-time polymerase chain reaction with fluorescent hybridization probes for the detection of prevalent mutations causing common thrombophilic and iron overload phenotypes.	2001	5	10.1309/3H1W-V6NH-N3P9-RHFJ
C Datz	Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency?	1998	6
Kate??ina Ka??kov??	Relations among serum ferritin, C282Y and H63D mutations in the HFE gene and type 2 diabetes mellitus in the Czech population	2002	2	10.1055/s-2002-33071
Ernest Beutler	Penetrance of 845G ??? A (C282Y) HFE hereditary haemochromatosis mutation in the USA	2002	23	10.1016/S0140-6736(02)07447-0
Peter B Nielsen	Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.	2012	1	10.1016/j.gene.2012.06.020
M O Van Aken	No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: the Leiden 85-plus study.	2002	1	10.1046/j.1365-2362.2002.01062.x
Zoltán Kutalik	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	2011	12	10.1093/hmg/ddr272
Nicholas J Osborne	HFE C282Y Homozygotes Are at Increased Risk of Breast and Colorectal Cancer	2010	1	10.1002/hep.23448
K J H Robson	Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.	2004	9	10.1136/jmg.2003.015552

Evidence compiled by the Personal Genome Project

Gene	Impact	Trait	Summary	Inheritance
HFE	Low clinical importance, pathogenic		This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.	recessive

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Ganesh SK	Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.	Nat Genet	10/11/2009	Mean corpuscular volume	1.0e-46	[0.010-0.014] fl increase
Soranzo N	A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.	Nat Genet	10/11/2009	Hematological parameters	1.0e-23 (MCV)	[1.13-1.69] fl increase
Kullo IJ	A genome-wide association study of red blood cell traits using the electronic medical record.	PLoS One	09/28/2010	Red blood cell traits	3.0e-09 (MCH)	[NR] unit increase
Teslovich TM	Biological, clinical and population relevance of 95 loci for blood lipids.	Nature	08/05/2010	LDL cholesterol	6.0e-10	[1.46-2.98] mg/dL decrease
Kutalik Z	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	Hum Mol Genet	06/10/2011	Alcohol consumption	2.0e-32 (Total transferrin)	[0.53-0.73] unit decrease
Middelberg RP	Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.	BMC Med Genet	09/24/2011	Cardiovascular disease risk factors	5.0e-12 (FERR)	[0.13-0.23] mg/l increase
Soranzo N	Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.	Diabetes	09/21/2010	Glycated hemoglobin levels	3.0e-20	[0.05-0.07] % increase
Benyamin B	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.	Am J Hum Genet	12/17/2008	Iron status biomarkers	4.0e-11 (serum iron)	[0.46-0.86] s.d. increase
Traglia M	Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.	J Med Genet	07/25/2011	Hepcidin levels	3.0e-15 (Tf Sat)	[0.46-0.76] ng/ml increase

Name	rs1800562
Chromosome	6
Position	26092913
Weight of evidence	138

SNP rs1800562

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

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