Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 GeneticVariation UNIPROT Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. 25588876

2015
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 GeneticVariation UNIPROT Sequencing analysis of the TMPRSS6 gene in 21 new IRIDA patients from 16 families with different ethnic origin reveal 17 novel mutations, including the most frequent mutation in Southern Italy (p.W590R). 25156943

2014
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 GeneticVariation UNIPROT A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia. 21618415

2012
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 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: rs770897887
rs770897887
TMPRSS6
0.700 GeneticVariation UNIPROT A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. 20704562

2010
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 GeneticVariation UNIPROT Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 20232450

2010
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 GeneticVariation UNIPROT Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. 19357398

2009
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 GeneticVariation UNIPROT Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. 19592582

2009
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 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: rs770897887
rs770897887
TMPRSS6
0.700 GeneticVariation UNIPROT Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia. 19708871

2009
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 GeneticVariation UNIPROT Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 18408718

2008
dbSNP: rs770897887
rs770897887
TMPRSS6
0.700 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