|
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 |
|
|
|
|
rs773624350
|
|
|
0.010 |
GeneticVariation |
BEFREE |
25, 14-15, 2000) identified a stop mutation (exon 6 nt 750 C --> T, Y250X) on the transferrin receptor-2 (TFR2) gene in two unrelated Sicilian families with hereditary hemochromatosis.
|
11358390 |
2001 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
57 patients with PCT drawn from three ethnic groups were screened for the presence of the C282Y and H63D mutations linked to GH, and the prevalences were compared with corresponding healthy control populations.
|
12699243 |
2002 |
|
rs1800562
|
|
|
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 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genetic hemochromatosis (GH) is associated with two mutations of the HFE gene (Cys282Tyr and His63Asp).
|
10705106 |
2000 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genetic hemochromatosis (GH) is associated with two mutations of the HFE gene (Cys282Tyr and His63Asp).
|
10705106 |
2000 |
|
rs1800562
|
|
|
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 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis is associated with C282Y homozygosity.
|
11040194 |
2000 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis usually results from C282Y homozygosity in the HFE gene on chromosome 6p.
|
11313241 |
2001 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis (HH) is one of the most common autosomal recessive disorders of iron metabolism among Caucasians, and it is associated with C282Y mutation of the HFE gene in populations of Celtic origins.
|
12537659 |
2002 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, elevated serum transferrin saturation and excess iron deposits throughout the body.
|
12763366 |
2003 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary haemochromatosis is rarely observed among Indians and so are the C282Y and H63D mutations in the HFE gene.
|
14765621 |
2004 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary haemochromatosis is rarely observed among Indians and so are the C282Y and H63D mutations in the HFE gene.
|
14765621 |
2004 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genetic hemochromatosis (GH) is an iron overload disorder mainly due to the C282Y mutation of the HFE gene.
|
15928800 |
2005 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis (HH) is a genetic iron overload disease, in the majority of cases associated with homozygosity for the C282Y mutation of the HFE gene.
|
16140024 |
2006 |