Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918367
rs121918367
Entrez Id: 4891
Gene Symbol: SLC11A2
SLC11A2
CUI: C3806153
Disease:
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
0.700 GeneticVariation UNIPROT Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 16160008 2006
dbSNP: rs121918367
rs121918367
Entrez Id: 4891
Gene Symbol: SLC11A2
SLC11A2
CUI: C3806153
Disease:
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
0.700 GeneticVariation UNIPROT Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 16439678 2006
dbSNP: rs121918367
rs121918367
Entrez Id: 4891
Gene Symbol: SLC11A2
SLC11A2
CUI: C3806153
Disease:
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
0.700 GeneticVariation UNIPROT Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 15459009 2005