Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family. | 25856402 | 2015 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation. | 26097845 | 2015 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | 22975760 | 2013 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. | 23321370 | 2013 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Prediction of mutant mRNA splice isoforms by information theory-based exon definition. | 23348723 | 2013 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil. | 21797703 | 2011 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Carrier testing for severe childhood recessive diseases by next-generation sequencing. | 21228398 | 2011 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. | 20395516 | 2010 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients. | 17365006 | 2007 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Identification of the four most common beta-globin gene mutations in Greek beta-thalassemic patients and carriers by PCR-SSCP: advantages and limitations of the method. | 16470532 | 2006 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | The beta+-IVS-I-6 (T-->C) mutation accounts for half of the thalassemia chromosomes in the Palestinian populations of the mountain regions. | 11939510 | 2002 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with beta-thalassaemia due to a homozygosity for the IVS-I-6 (T-->C) mutation. | 7522523 | 1994 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Beta-thalassemia in Turkey. | 2200760 | 1990 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. | 6280057 | 1982 | |||||
Anemia, Sickle Cell
|
0.700 | CausalMutation | CLINVAR | ||||||||
alpha-Thalassemia
|
0.700 | CausalMutation | CLINVAR | ||||||||
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
ERYTHROCYTOSIS, FAMILIAL, 6
|
0.700 | CausalMutation | CLINVAR | ||||||||
Beta Thalassemia, Dominant Inclusion Body Type
|
0.700 | CausalMutation | CLINVAR | ||||||||
METHEMOGLOBINEMIA, BETA TYPE
|
0.700 | CausalMutation | CLINVAR | ||||||||
Heinz Body Anemias
|
0.700 | CausalMutation | CLINVAR | ||||||||
MALARIA, SUSCEPTIBILITY TO (finding)
|
0.700 | CausalMutation | CLINVAR | ||||||||
beta^+^ Thalassemia
|
0.700 | CausalMutation | CLINVAR |