Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.900 GeneticVariation UNIPROT

dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		A 0.900 GeneticVariation CLINVAR

dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3150862
Disease: HEMOCHROMATOSIS, JUVENILE, DIGENIC
HEMOCHROMATOSIS, JUVENILE, DIGENIC 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C2673520
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding) 		A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C2673518
Disease: PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO 		A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3280096
Disease: TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C2673517
Disease: PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO 		A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C1856170
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO
ALZHEIMER DISEASE, SUSCEPTIBILITY TO 		A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.090 GeneticVariation BEFREE (2004); J Med Genet 41:261-265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. 20029940

2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation BEFREE (5) Only the two C282Y homozygote patients had substantial iron overload. 16454835

2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		0.010 GeneticVariation BEFREE .To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy. 16583477

2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C1384584
Disease: Generalized osteoarthritis
Generalized osteoarthritis 		0.010 GeneticVariation BEFREE .To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy. 16583477

2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.040 GeneticVariation BEFREE .To test the hypothesis that possession of either C282Y or H63D mutations in the HFE gene is associated with primary osteoarthritis (OA) in joints commonly affected in hemochromatotic arthropathy. 16583477

2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.900 GeneticVariation BEFREE 3.1%, 16.8% and 17.5% of infants (N=390) and 1.9%, 14.5% and 18.9% of mothers (N=533) carried the HFE C282Y, HFE H63D, and TF P570 S variants, respectively. 20659343

2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 GeneticVariation BEFREE 49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP. 17001480

2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.050 GeneticVariation BEFREE 49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP. 17001480

2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.900 GeneticVariation BEFREE 5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals. 10953954

2000
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.100 GeneticVariation BEFREE 5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals. 10953954

2000
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation BEFREE Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations. 10027719

1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.900 GeneticVariation BEFREE Hemochromatosis (HH) is usually caused by the homozygous state for C282Y mutation in the HFE gene. 10216143

1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.100 GeneticVariation BEFREE Hemochromatosis (HH) is usually caused by the homozygous state for C282Y mutation in the HFE gene. 10216143

1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.800 GeneticVariation BEFREE Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body. 10471457

1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.800 GeneticVariation BEFREE Genetic hemochromatosis (GH) is associated with two mutations of the HFE gene (Cys282Tyr and His63Asp). 10705106

2000
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.800 GeneticVariation BEFREE Hereditary hemochromatosis (HH) is a disorder of iron metabolism that leads to iron overload in middle age and can be caused by homozygosity for the C282Y mutation in the HFE gene. 10953958

2000