Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 28356264

2017
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132

2014
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 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
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. 21799269

2011
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Genetic basis of end-stage hypertrophic cardiomyopathy. 21896538

2011
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453

2006
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China. 15992656

2005
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845

2005
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004
dbSNP: rs368861241
rs368861241
TNNI3
0.720 GeneticVariation BEFREE The near N-terminal region (cRp; residues 34-71) contains the protein kinase C (PKC) phosphorylation sites S41 and S43, the inhibitory region (cIp; residues 128-147) contains another PKC site T142 and a familial hypertrophic cardiomyopathy (FHC) mutation R144G, and the switch region (cSp; residues 147-163) contains the novel p21-activated kinase (PAK) site S149 and another FHC mutation R161W. 14661957

2003
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Functional consequences of the six mutations (R145G, R145Q, R162W, DeltaK183, G203S, K206Q) in cardiac troponin I (cTnI) that cause familial hypertrophic cardiomyopathy (HCM) were studied using purified recombinant human cTnI. 11735257

2001
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205

2000
dbSNP: rs368861241
rs368861241
TNNI3
0.720 GeneticVariation BEFREE We have analyzed the functional effects of two HCM mutations (R145G and R162W) using purified recombinant cTnI. 10806205

2000
dbSNP: rs368861241
rs368861241
TNNI3
A 0.720 GeneticVariation CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277

1997