Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. | 22876777 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. | 21511876 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. | 15698845 | 2005 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. | 15607392 | 2004 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. | 12860912 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.710 | CausalMutation | CLINVAR | ||||||
|
A | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
C | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR |