Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation BEFREE Furthermore, we characterized the common TMPRSS6 polymorphism V736A identified in Hep3B cells, the V795I mutation found in HepG2 cells, also associated with IRIDA, and the G603R substitution recently detected in two IRIDA patients. 30135444

2018
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. 25588876

2015
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation BEFREE We herein report a Korean female with IRIDA who was compound heterozygous for two mutations in TMPRSS6: a novel missense mutation c.1807G>C (p.Gly603Arg) in the serine protease domain and a known splicing mutation c.863+1G>T (IVS6+1G>T). 21618415

2012
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity. 22581667

2012
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT We herein report a Korean female with IRIDA who was compound heterozygous for two mutations in TMPRSS6: a novel missense mutation c.1807G>C (p.Gly603Arg) in the serine protease domain and a known splicing mutation c.863+1G>T (IVS6+1G>T). 21618415

2012
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. 20704562

2010
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 20232450

2010
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia. 19747362

2009
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. 19592582

2009
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia. 19708871

2009
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. 19357398

2009
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. 18603562

2008
dbSNP: rs769083817
rs769083817
TMPRSS6
0.720 GeneticVariation UNIPROT Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 18408718

2008