rs1275561861, HLA-A

N. diseases: 23
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE Iron loading in p.C282Y homozygous HFE hemochromatosis subjects is highly variable, and it is unclear what factors cause this variability. 28678636 2017
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE CONCLUSIONS In nonscreening hemochromatosis probands with HFE C282Y homozygosity, a heritable factor(s) increases the risk of diabetes diagnosed before hemochromatosis. 23990522 2014
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE Effects of highly conserved major histocompatibility complex (MHC) extended haplotypes on iron and low CD8+ T lymphocyte phenotypes in HFE C282Y homozygous hemochromatosis patients from three geographically distant areas. 24282517 2013
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE HLA-A3-B14 and the origin of the haemochromatosis C282Y mutation: founder effects and recombination events during 12 generations in a Scandinavian family with major iron overload. 19912313 2010
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload. 16509978 2006
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload. 15607698 2005
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE Direct comparison of the telomerically extended portion of the MS susceptibility haplotype in HFE-Cys282Tyr (C282Y)-homozygous haemochromatosis patients identified a common ancestry for this genomic segment, which translated into an increased frequency of the C282Y allele in 489 MS cases from Tasmania and Victoria (10.2%) compared with controls (6.7%). 15014978 2004
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE Eight of 240 CVID or IgGSD index patients had hemochromatosis phenotypes and C282Y homozygosity (3 vs 0.7% and 0.2% controls; P < 0.0001, respectively). 12850493 2004
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE The origin and spread of the HFE-C282Y haemochromatosis mutation. 15290237 2004
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. 11887210 2002
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE A woman who inherited C282Y also possessed HLA-A3, -B7 which is considered part of the ancestral haplotype containing the gene predisposing to hemochromatosis in Caucasians. 11763282 2001
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE To localize and identify the modifying genes, we investigated eight families including C282Y homozygous relatives showing no clinical signs of the disease, in addition to the hemochromatosis patients. 11500063 2001
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.100 GeneticVariation BEFREE High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population--implications for haemochromatosis. 9864039 1998