HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation UNIPROT
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
A 0.900 GeneticVariation CLINVAR
dbSNP: rs111033563
rs111033563
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
C 0.810 CausalMutation CLINVAR
dbSNP: rs28934597
rs28934597
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
C 0.810 CausalMutation CLINVAR
dbSNP: rs111033558
rs111033558
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
T 0.800 CausalMutation CLINVAR
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0002395
Disease:
Alzheimer's Disease
G 0.800 CausalMutation CLINVAR
dbSNP: rs28934595
rs28934595
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
C 0.800 CausalMutation CLINVAR
dbSNP: rs28934596
rs28934596
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
C 0.800 CausalMutation CLINVAR
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.720 SusceptibilityMutation CLINVAR
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0162532
Disease:
Variegate Porphyria
G 0.710 CausalMutation CLINVAR
dbSNP: rs1554154042
rs1554154042
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0392514
Disease:
Hereditary hemochromatosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1561939338
rs1561939338
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
TGGAGTC 0.700 GeneticVariation CLINVAR
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C2673520
Disease:
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0268323
Disease:
Familial porphyria cutanea tarda
G 0.700 CausalMutation CLINVAR
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3280096
Disease:
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
G 0.700 CausalMutation CLINVAR
dbSNP: rs1799945
rs1799945
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C2673520
Disease:
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
G 0.700 CausalMutation CLINVAR
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3150862
Disease:
HEMOCHROMATOSIS, JUVENILE, DIGENIC
A 0.700 CausalMutation CLINVAR
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C2673520
Disease:
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C2673518
Disease:
PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3280096
Disease:
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C2673517
Disease:
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1800562
rs1800562
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C1856170
Disease:
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs747739169
rs747739169
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1
0.700 GeneticVariation UNIPROT
dbSNP: rs749553271
rs749553271
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0392514
Disease:
Hereditary hemochromatosis
T 0.700 CausalMutation CLINVAR