Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853119
rs137853119
0.800 GeneticVariation UNIPROT Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. 25588876

2015

dbSNP: rs137853120
rs137853120
0.800 GeneticVariation UNIPROT Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. 25588876

2015

dbSNP: rs267607121
rs267607121
0.800 GeneticVariation UNIPROT Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. 25588876

2015

dbSNP: rs387907018
rs387907018
0.800 GeneticVariation UNIPROT Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. 25588876

2015

dbSNP: rs137853119
rs137853119
0.800 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014

dbSNP: rs137853120
rs137853120
0.800 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014

dbSNP: rs267607121
rs267607121
0.800 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014

dbSNP: rs387907018
rs387907018
0.800 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014

dbSNP: rs137853119
rs137853119
0.800 GeneticVariation UNIPROT A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia. 21618415

2012

dbSNP: rs137853119
rs137853119
0.800 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: rs137853120
rs137853120
0.800 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: rs137853120
rs137853120
0.800 GeneticVariation UNIPROT A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia. 21618415

2012

dbSNP: rs267607121
rs267607121
0.800 GeneticVariation UNIPROT A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia. 21618415

2012

dbSNP: rs267607121
rs267607121
0.800 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: rs387907018
rs387907018
0.800 GeneticVariation UNIPROT A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia. 21618415

2012

dbSNP: rs387907018
rs387907018
0.800 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: rs137853119
rs137853119
0.800 GeneticVariation UNIPROT Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 20232450

2010

dbSNP: rs137853119
rs137853119
0.800 GeneticVariation UNIPROT A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. 20704562

2010

dbSNP: rs137853120
rs137853120
0.800 GeneticVariation UNIPROT A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. 20704562

2010

dbSNP: rs137853120
rs137853120
0.800 GeneticVariation UNIPROT Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 20232450

2010

dbSNP: rs267607121
rs267607121
0.800 GeneticVariation UNIPROT A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. 20704562

2010

dbSNP: rs267607121
rs267607121
0.800 GeneticVariation UNIPROT Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 20232450

2010

dbSNP: rs387907018
rs387907018
0.800 GeneticVariation UNIPROT Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 20232450

2010

dbSNP: rs387907018
rs387907018
0.800 GeneticVariation UNIPROT A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. 20704562

2010

dbSNP: rs137853119
rs137853119
0.800 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