Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376897125
rs376897125
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs376897125
rs376897125
T 0.700 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016

dbSNP: rs376897125
rs376897125
T 0.700 GeneticVariation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013

dbSNP: rs376897125
rs376897125
T 0.700 GeneticVariation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012

dbSNP: rs376897125
rs376897125
T 0.700 GeneticVariation CLINVAR Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. 21239446

2011

dbSNP: rs376897125
rs376897125
T 0.700 GeneticVariation CLINVAR Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. 20031602

2009

dbSNP: rs376897125
rs376897125
T 0.700 GeneticVariation CLINVAR Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. 12566107

2003