|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1800562
|
|
HEMOCHROMATOSIS, JUVENILE, DIGENIC
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1800562
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1800562
|
|
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
|
A |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs1800562
|
|
PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
|
A |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs1800562
|
|
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1800562
|
|
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
|
A |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs1800562
|
|
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
|
A |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.
|
8916933 |
1996 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.
|
8943161 |
1996 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here we report that the Cys282Tyr change accounts for 69% of HH chromosomes in a series of 75 unrelated Italian patients who fulfilled well-defined criteria for HH diagnosis.
|
9106528 |
1997 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here we report that the Cys282Tyr change accounts for 69% of HH chromosomes in a series of 75 unrelated Italian patients who fulfilled well-defined criteria for HH diagnosis.
|
9106528 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
|
9162021 |
1997 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
A |
0.800 |
CausalMutation
|
CLINVAR |
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
|
9162021 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
This second mutation, which probably represents a common variant unrelated to hemochromatosis, thus appears to have occurred earlier than that responsible for the Cys282Tyr substitution.
|
9211748 |
1997 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
This second mutation, which probably represents a common variant unrelated to hemochromatosis, thus appears to have occurred earlier than that responsible for the Cys282Tyr substitution.
|
9211748 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women.
|
9292507 |
1997 |
|
rs1800562
|
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.900 |
GeneticVariation
|
BEFREE |
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
|
9341868 |
1997 |
|
rs1800562
|
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.
|
9341868 |
1997 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
|
9356458 |
1997 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Recent studies have shown that hereditary hemochromatosis (HH) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HFE gene located 4.5 Mb telomeric to HLA-A.
|
9358014 |
1997 |
|
rs1800562
|
|
Hereditary hemochromatosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Such a high proportion of genetic hemochromatosis is not found in heterozygotes for the C282Y mutation alone neither in our series nor in the literature.
|
9410470 |
1997 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Compound heterozygotes for the C282Y and the H63D mutations may have a higher risk of iron overload or genetic hemochromatosis than single heterozygotes for the C282Y mutation.
|
9410470 |
1997 |