Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145213771
rs145213771
MYH7 ; MIR208B ; MHRT
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs145213771
rs145213771
MYH7 ; MIR208B ; MHRT
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		A 0.700 GeneticVariation CLINVAR A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death. 23140321

2012
dbSNP: rs145213771
rs145213771
MYH7 ; MIR208B ; MHRT
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		A 0.700 GeneticVariation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
dbSNP: rs145213771
rs145213771
MYH7 ; MIR208B ; MHRT
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		A 0.700 GeneticVariation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004