Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918679
rs121918679
TF
0.800 GeneticVariation UNIPROT Molecular characterization of a third case of human atransferrinemia. 15466165

2004

dbSNP: rs121918681
rs121918681
0.800 GeneticVariation UNIPROT Molecular characterization of a third case of human atransferrinemia. 15466165

2004

dbSNP: rs121918679
rs121918679
TF
0.800 GeneticVariation UNIPROT Molecular characterization of a case of atransferrinemia. 11110675

2000

dbSNP: rs121918681
rs121918681
0.800 GeneticVariation UNIPROT Molecular characterization of a case of atransferrinemia. 11110675

2000

dbSNP: rs121918679
rs121918679
TF
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918681
rs121918681
A 0.800 CausalMutation CLINVAR

dbSNP: rs773139494
rs773139494
TF
T 0.700 GeneticVariation CLINVAR Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia. 17768112

2007

dbSNP: rs773139494
rs773139494
TF
T 0.700 GeneticVariation CLINVAR Biochemical and genetic defects underlying human congenital hypotransferrinemia. 11920219

2000

dbSNP: rs121918680
rs121918680
TF
A 0.700 CausalMutation CLINVAR