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 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: rs776180387
rs776180387
TMPRSS6
0.710 GeneticVariation BEFREE The R271Q variant, although it has been associated with iron-refractory iron deficiency anemia, appears to remain functional. 25588876

2015
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: 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: 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: rs137853119
rs137853119
TMPRSS6
T 0.800 CausalMutation CLINVAR

dbSNP: rs137853120
rs137853120
TMPRSS6
T 0.800 CausalMutation CLINVAR

dbSNP: rs267607121
rs267607121
TMPRSS6
T 0.800 CausalMutation CLINVAR

dbSNP: rs387907018
rs387907018
TMPRSS6
T 0.800 CausalMutation CLINVAR

dbSNP: rs1135401784
rs1135401784
CP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs137853121
rs137853121
TMPRSS6
T 0.700 CausalMutation CLINVAR

dbSNP: rs137853122
rs137853122
TMPRSS6
C 0.700 CausalMutation CLINVAR

dbSNP: rs137853123
rs137853123
TMPRSS6
A 0.700 CausalMutation CLINVAR

dbSNP: rs137853123
rs137853123
TMPRSS6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569024289
rs1569024289
TMPRSS6
C 0.700 CausalMutation CLINVAR

dbSNP: rs386134141
rs386134141
CP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs767094129
rs767094129
TMPRSS6
G 0.700 CausalMutation CLINVAR

dbSNP: rs775869554
rs775869554
TMPRSS6
A 0.700 CausalMutation CLINVAR

dbSNP: rs786205058
rs786205058
TMPRSS6
T 0.700 CausalMutation CLINVAR

dbSNP: rs786205059
rs786205059
TMPRSS6
G 0.700 CausalMutation CLINVAR