rs74315323
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs1051249273
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121434374
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1220336558
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1426704853
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554154042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1562838535
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs749553271
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs765804978
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs772104483
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs773050231
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1799945
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
rs1799945
|
|
G |
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 |
rs1799945
|
|
|
0.800 |
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 |
rs1799945
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
|
9162021 |
1997 |
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Five patients had no HFE mutations; one of these patients unequivocally has iron overload with a hepatic iron index of 4.4 We conclude that: (1) Identification of HFE mutations will be clinically useful in identifying patients with hereditary hemochromatosis, (2) Patient genotyping will help confirm a diagnosis of hereditary hemochromatosis in some patients with relatively low body iron stores, (3) Significant iron loading can occur in the absence of homozygous C282Y, adding to the evidence that genes other than HFE may be involved in iron loading, and (4) Homozygous H63D can be associated with significant iron overload.
|
9410475 |
1997 |
rs1800562
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis.
|
9497921 |
1997 |
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Five patients had no HFE mutations; one of these patients unequivocally has iron overload with a hepatic iron index of 4.4 We conclude that: (1) Identification of HFE mutations will be clinically useful in identifying patients with hereditary hemochromatosis, (2) Patient genotyping will help confirm a diagnosis of hereditary hemochromatosis in some patients with relatively low body iron stores, (3) Significant iron loading can occur in the absence of homozygous C282Y, adding to the evidence that genes other than HFE may be involved in iron loading, and (4) Homozygous H63D can be associated with significant iron overload.
|
9410475 |
1997 |
rs1800562
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
|
9162021 |
1997 |
rs1800562
|
|
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
|
|
|
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 |
rs1275561861
|
|
|
0.080 |
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 |
rs1168921011
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Cys-282 --> Tyr mutation in HH patients would be expected to disrupt the function of the HLA-H gene product by altering a critical disulfide bridge.
|
9122230 |
1997 |
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.
|
9833909 |
1998 |