| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Experience with multiplex ARMS (MARMS)-PCR for the detection of common β-thalassemia mutations in India. | 22239493 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population. | 22392582 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Hydroxyurea in sickle cell disease--a study of clinico-pharmacological efficacy in the Indian haplotype. | 18954999 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. | 19254853 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. | 18294253 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Co-existence of the codon 16 (-C) (beta(o)) and codon 10 (C --> A) (beta+) mutations on the same beta-globin gene. | 12779277 | 2003 |
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|
T | 0.700 | CausalMutation | CLINVAR | Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. | 12368169 | 2002 |
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|
T | 0.700 | CausalMutation | CLINVAR | Identification of a compound beta-thalassemia homozygosity [codon 10 (GCC-->GCA) and codon 16 (-C)] in an Afghan family. | 12403498 | 2002 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular characterization of seven beta-thalassemia mutations in Asian Indians. | 6714226 | 1984 |