Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139105452
rs139105452
TMPRSS6
0.010 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: rs376129674
rs376129674
HJV
0.010 GeneticVariation BEFREE The R271Q variant, although it has been associated with iron-refractory iron deficiency anemia, appears to remain functional. 25588876

2015
dbSNP: rs769217
rs769217
CAT
0.010 GeneticVariation BEFREE A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients. 22286031

2012
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: 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: 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: rs1430692214
rs1430692214
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: rs1449962575
rs1449962575
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: rs199474802
rs199474802
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: rs199474803
rs199474803
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: rs199474804
rs199474804
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: rs199474805
rs199474805
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 Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. 25588876

2015
dbSNP: rs773272073
rs773272073
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: rs776069764
rs776069764
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: rs1430692214
rs1430692214
TMPRSS6
0.700 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014
dbSNP: rs1449962575
rs1449962575
TMPRSS6
0.700 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014
dbSNP: rs199474802
rs199474802
TMPRSS6
0.700 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014
dbSNP: rs199474803
rs199474803
TMPRSS6
0.700 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014
dbSNP: rs199474804
rs199474804
TMPRSS6
0.700 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014
dbSNP: rs199474805
rs199474805
TMPRSS6
0.700 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014
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: rs773272073
rs773272073
TMPRSS6
0.700 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014
dbSNP: rs776069764
rs776069764
TMPRSS6
0.700 GeneticVariation UNIPROT Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. 25156943

2014