Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3218716
rs3218716
0.710 GeneticVariation BEFREE We identified a novel association between MYBPH and hypertrophy traits in HCM patients carrying the p.A797T MYH7 mutation, suggesting that variation in MYBPH can modulate the severity of hypertrophy in HCM. 26969327

2016

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. 19880069

2009

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. 18029407

2008

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710

2006

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation. 11186938

2000

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. 10521296

1999

dbSNP: rs3218716
rs3218716
T 0.710 CausalMutation CLINVAR Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. 7581410

1995