Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1276519904
rs1276519904
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1562127631
rs1562127631
A 0.700 CausalMutation CLINVAR

dbSNP: rs367814475
rs367814475
IVD
T 0.700 CausalMutation CLINVAR

dbSNP: rs587782995
rs587782995
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1800562
rs1800562
0.010 GeneticVariation BEFREE A 14-year-old boy who presented with debilitating lethargy was shown to have an elevated serum ferritin of 572 microg/L and a C282Y homozygous HFE genotype. 16704763

2006

dbSNP: rs867410737
rs867410737
T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018