Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401784
rs1135401784
CP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121918365
rs121918365
SLC11A2
0.010 GeneticVariation BEFREE Functional characterization of the E399D DMT1/NRAMP2/SLC11A2 protein produced by an exon 12 mutation in a patient with microcytic anemia and iron overload. 16023393

2006
dbSNP: rs121918366
rs121918366
SLC11A2
0.010 GeneticVariation BEFREE We propose that DMT1(C1246T) (R416C) represents a complete loss-of-function, and that a quantitative reduction in DMT1 expression is the cause of the microcytic anemia and iron overload in the patient. 16584902

2006
dbSNP: rs121918367
rs121918367
SLC11A2
0.010 GeneticVariation BEFREE A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload. 21871825

2011
dbSNP: rs1373272804
rs1373272804
TMPRSS6
0.700 GeneticVariation UNIPROT

dbSNP: rs137852311
rs137852311
ALAS2
0.010 GeneticVariation BEFREE ALAS2 R452S largely explains this patient's microcytic anemia and multi-organ iron overload and dysfunction. 19066423

2008
dbSNP: rs137853119
rs137853119
TMPRSS6
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
dbSNP: rs137853119
rs137853119
TMPRSS6
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
TMPRSS6
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
TMPRSS6
0.800 GeneticVariation UNIPROT Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). 20232450

2010
dbSNP: rs137853119
rs137853119
TMPRSS6
0.800 GeneticVariation UNIPROT Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. 19592582

2009
dbSNP: rs137853119
rs137853119
TMPRSS6
0.800 GeneticVariation UNIPROT A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. 20704562

2010
dbSNP: rs137853119
rs137853119
TMPRSS6
0.800 GeneticVariation UNIPROT Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 18408718

2008
dbSNP: rs137853119
rs137853119
TMPRSS6
0.800 GeneticVariation UNIPROT Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia. 19708871

2009
dbSNP: rs137853119
rs137853119
TMPRSS6
T 0.800 CausalMutation CLINVAR

dbSNP: rs137853119
rs137853119
TMPRSS6
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
TMPRSS6
0.800 GeneticVariation UNIPROT Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. 19357398

2009
dbSNP: rs137853119
rs137853119
TMPRSS6
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
TMPRSS6
0.800 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: rs137853120
rs137853120
TMPRSS6
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
TMPRSS6
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
dbSNP: rs137853120
rs137853120
TMPRSS6
0.800 GeneticVariation UNIPROT Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 18408718

2008
dbSNP: rs137853120
rs137853120
TMPRSS6
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
TMPRSS6
0.800 GeneticVariation UNIPROT Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia. 19708871

2009
dbSNP: rs137853120
rs137853120
TMPRSS6
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