| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Spectrum of α-thalassemia and β-thalassemia mutations in the Guilin Region of southern China. | 26079343 | 2015 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. | 19372376 | 2009 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient. | 8435318 | 1993 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation. | 2014803 | 1991 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Compound heterozygosity for a mild beta (+) and a rare beta(0)-thalassemia allele. | 2123063 | 1990 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States. | 2458145 | 1988 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | "The same ""TATA"" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation." | 3021607 | 1986 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Fine structure genetic analysis of a beta-globin promoter. | 3457470 | 1986 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | The spectrum of beta-thalassemia genes in China and Southeast Asia. | 2875755 | 1986 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | "beta-Thalassemia in American Blacks: novel mutations in the ""TATA"" box and an acceptor splice site." | 6583702 | 1984 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. | 6583683 | 1984 | |||||
MALARIA, SUSCEPTIBILITY TO (finding)
|
0.700 | CausalMutation | CLINVAR | ||||||||
METHEMOGLOBINEMIA, BETA TYPE
|
0.700 | CausalMutation | CLINVAR | ||||||||
Heinz Body Anemias
|
0.700 | CausalMutation | CLINVAR | ||||||||
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
ERYTHROCYTOSIS, FAMILIAL, 6
|
0.700 | CausalMutation | CLINVAR | ||||||||
Beta thalassemia intermedia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Beta Thalassemia, Dominant Inclusion Body Type
|
0.700 | CausalMutation | CLINVAR | ||||||||
Anemia, Sickle Cell
|
0.700 | CausalMutation | CLINVAR | ||||||||
beta^+^ Thalassemia
|
0.700 | CausalMutation | CLINVAR | ||||||||
alpha-Thalassemia
|
0.700 | CausalMutation | CLINVAR |