| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
CGGGG | 0.700 | CausalMutation | CLINVAR | ||||||
|
TGC | 0.700 | CausalMutation | CLINVAR | ||||||
|
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 |
||||
|
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 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). | 18408718 | 2008 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). | 18408718 | 2008 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). | 18408718 | 2008 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). | 18408718 | 2008 |