Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516008
rs397516008
MYBPC3
TA 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516008
rs397516008
MYBPC3
TA 0.700 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs397516008
rs397516008
MYBPC3
TA 0.700 CausalMutation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014
dbSNP: rs397516008
rs397516008
MYBPC3
TA 0.700 CausalMutation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014
dbSNP: rs397516008
rs397516008
MYBPC3
TA 0.700 CausalMutation CLINVAR A novel custom resequencing array for dilated cardiomyopathy. 20474083

2010