Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.010 GeneticVariation BEFREE To investigate the presence of H63D and C282Y mutations in the HFE gene, patient II-I was found to be compound heterozygous and was the only family member presenting HS and this genetic condition in HFE. 12961032

2003