Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315323
rs74315323
HJV
A 0.720 CausalMutation CLINVAR

dbSNP: rs1051249273
rs1051249273
TFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs121434374
rs121434374
HJV
T 0.700 CausalMutation CLINVAR

dbSNP: rs1220336558
rs1220336558
TFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1426704853
rs1426704853
TFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554154042
rs1554154042
HFE ; LOC108783645
T 0.700 CausalMutation CLINVAR

dbSNP: rs1562838535
rs1562838535
TFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs749553271
rs749553271
HFE ; LOC108783645
T 0.700 CausalMutation CLINVAR

dbSNP: rs765804978
rs765804978
HFE ; LOC108783645
A 0.700 CausalMutation CLINVAR

dbSNP: rs772104483
rs772104483
TFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs773050231
rs773050231
TFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
G 0.800 CausalMutation CLINVAR A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 8696333

1996
dbSNP: rs1168921011
rs1168921011
MYBPH
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
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
G 0.800 CausalMutation CLINVAR The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 9162021

1997
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.800 CausalMutation CLINVAR The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 9162021

1997
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
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
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
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
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
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
dbSNP: rs1275561861
rs1275561861
HLA-A
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
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
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
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
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
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
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
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
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
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.800 GeneticVariation BEFREE The identification of a candidate gene for hereditary hemochromatosis in 69%-100% of patients with hemochromatosis has resulted in a diagnostic genotypic test (C282Y). 9453492

1998
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.800 GeneticVariation BEFREE A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis. 9497921

1997