Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.050 GeneticVariation BEFREE Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. 31707418

2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.050 GeneticVariation BEFREE Investigation of correlation between H63D and C282Y mutations in HFE gene and serum Ferritin level in beta-thalassemia major patients. 31679808

2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.050 GeneticVariation BEFREE Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan. 31522215

2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.050 GeneticVariation BEFREE Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major. 14765621

2004
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.050 GeneticVariation BEFREE Screening a cohort of beta-thalassaemia major and sickle cell anaemia patients of predominantly Mediterranean origin showed that these individuals do not have the common C282Y mutation. 11186424

2000